Saitsu Hirotomo 才津浩智

… Alternative Names

SAITSU Hirotomo 才津浩智

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Researcher Number	40402838
Other IDs
Affiliation (Current)	2025: 浜松医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help	2015 – 2025: 浜松医科大学, 医学部, 教授 2014: 横浜市立大学, 医学(系)研究科(研究院), 准教授 2010 – 2014: 横浜市立大学, 医学部, 准教授 2012: 横浜市立大学, 医学部, 医学部 2008 – 2009: Yokohama City University, 医学部, 助教 … More 2007: Yokohama City University, 医学研究科, 助教 2006: 京都大学, 医学研究科, 助手 2006: 横浜市立大学, 医学研究科, 助手 Less
Review Section/Research Field	Principal Investigator Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields / Pediatrics / General anatomy (including Histology/Embryology) Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 53020:Cardiology-related / Basic Section 56060:Ophthalmology-related / Basic Section 52010:General internal medicine-related / Basic Section 48020:Physiology-related … More / Basic Section 51030:Pathophysiologic neuroscience-related / General anatomy (including Histology/Embryology) / Pediatrics / Human genetics Less
Keywords	Principal Investigator ゲノム / エクソーム解析 / てんかん / 変異マウス / インフォマティクス解析 / スプライス異常 / マルチオミクス解析 / 尿細胞 / マウスモデル / 次世代シークエンス … More / 遺伝学 / 乳児てんかん / てんかん性脳症 / 遺伝子変異 / 次世代シークエンサー / STXBP1 / 大田原症候群 / 乳児 / スプライシング異常 / 非コード領域 / ミスセンス変異体 / ハイスループットスクリーニング / インフォマティクス / 小児脳神経疾患 / ゲノム編集マウス / 神経前駆細胞 / 神経葉細胞 / 末梢血単核球 / iPS細胞 / RNA-seq / 細胞モデル / 変異ノックインマウス / 遺伝子解析 / 全エクソーム解析 / 新規責任遺伝子 / RNA / スプライシング / ターゲットキャプチャ－ / スプライス変異 / West症候群 / SPTAN1 / MEF2C / SRGAP2 / 転座 / CDKL5 / CASK / KCNQ2 / 年齢依存性てんかん性脳症 / 早期発症てんかん性脳症 / ウエスト症候群 / ゲノムマイクロアレイ / 新生児 / 太田原症候群 / 先天異常 / 葉酸 / 神経管奇形 / 発生・分化 / 脳・神経 … More Except Principal Investigator 全ゲノム解析 / 遺伝子 / 遺伝子解析 / てんかん / 中性脂肪蓄積心筋血管症 / レーバー先天黒内障 / 若年発症網膜ジストロフィ / RPGRIP1 / EORD / LCA / ディープイントロン / オープンプロマチン / 連鎖解析 / 調節領域 / スプライシング / メンデル遺伝 / 非コード領域 / 外部精度評価 / リキッドバイオプシー / プロセス管理 / ゲノム医療 / 技能試験 / 質保証 / 血中遊離核酸検査 / 弓状核 / 低栄養 / セロトニン / NKCC1 / KCC2 / AgRP / CRH / GABA / 病型予測法 / イメージング質量分析 / 進行性炎症性脱髄 / 糖脂質 / リン脂質 / モデルマウス / 酸化リン分子種 / 病型予測 / マルチオミックス解析 / 発症早期診断 / 酸化リン脂質 / 炎症性脱髄 / マルチオミクス解析 / 発症因子 / 副腎白質ジストロフィー / 病理組織学的解析 / カルシウムイメージング / イメージング / トランスクリプトーム解析 / ヒト脳スライス標本 / 神経病理学 / 病態生理学 / ex vivo / 病理学的解析 / ヒト / 3次元的形態解析 / 光学的イメージング解析 / 電気生理 / 光学的イメージング / ヒト脳スライス / 限局性皮質異形成 / 海馬硬化症 / 神経病理 / 光イメージング / layer formation / cell cycle / cerebral cortex / regulation of gene expression / signal / positional information / nuclei / diencephalon / Lhx / Sonic hedgehog / Fgf / 形態形成 / 前脳 / 層構造 / 細胞周期 / 大脳皮質 / 発現制御 / シグナル / 位置情報 / 神経核 / 間脳 / 次世代シーケンサー / 全エクソーム解析 / イオンチャネル / SCN8A / SCN2A / KCNQ2 / 大田原症候群 / マウス / 常染色体劣性遺伝 / 四肢異常 / 眼球低形成 / 分子遺伝学 Less

特発性中性脂肪蓄積心筋血管症の網羅的遺伝子解析ならびに重症度層別化モデルの構築
- Principal Investigator
  
  諏訪賢一郎
- Project Period (FY)
  2025 – 2029
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Hamamatsu University School of Medicine
血中遊離核酸検査の質保証と技能試験の開発；精確な結果に基づくゲノム医療をめざして
- Principal Investigator
  
  前川真人
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52010:General internal medicine-related
- Research Institution
  Hamamatsu University School of Medicine
Elucidation of novel mechanisms of pediatric neurological diseases focusing on non-coding regions of the genomePrincipal Investigator
- Principal Investigator
  
  才津浩智
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hamamatsu University School of Medicine
Genomic investigation on congenital endocrine disorders with a focus on non-coding regions.
- Principal Investigator
  
  鳴海覚志
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Keio University
最新のインフォマティクス解析による若年発症網膜ジストロフィの分子基盤の解明
- Principal Investigator
  
  鳥居薫子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56060:Ophthalmology-related
- Research Institution
  Hamamatsu University School of Medicine
Development of a high-throughput functional evaluation system focusing on the stability of missense variantsPrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2022 – 2023
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Hamamatsu University School of Medicine
Effects of maternal undernutrition on offspring brain development via a newly discovered GABAergic CRH release pathway
- Principal Investigator
  
  FUKUDA Atsuo
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 48020:Physiology-related
- Research Institution
  Hamamatsu University School of Medicine
Multiomics analysis of neurological diseases using neural progenitor cells directly derived from urinary cellsPrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2020 – 2021
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Hamamatsu University School of Medicine
Elucidation of genetic factors and molecular pathology of neurodevelopmental disorders by a multifaceted approachPrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hamamatsu University School of Medicine
Development of a predictive method for cerebral onset of adrenoleukodystrophy by multiomics analysis
- Principal Investigator
  
  Shimozawa Nobuyuki
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Gifu University
Ex vivo optical imaging of human brain tissues for visualization of epileptogenic networks.
- Principal Investigator
  
  Kitaura Hiroki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Komatsu University
  Niigata University
Elucidation for genetic basis and molecular pathology of infantile epileptic encephalopathyPrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
Comprehensive RNA analysis of disease causing genes by target RNA capturePrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Hamamatsu University School of Medicine
  Yokohama City University
Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysisPrincipal Investigator
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
  Yokohama City University
Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer
- Principal Investigator
  
  KATO Mitsuhiro
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Identification of responsive genes for age-dependent infantile epileptic encephalopathyPrincipal Investigator
- Principal Investigator
  
  SAITSU Hirotomo
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Isolation of a causative gene for microphthalmia with limb anomaly
- Principal Investigator
  
  MASUKO Kiyomi
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
Identification of responsive genes for infantile epilepsy using genomic microarrayPrincipal Investigator
- Principal Investigator
  
  SAITSU Hirotomo
- Project Period (FY)
  2008 – 2009
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Yokohama City University
マウス胚神経管における葉酸受容体の発現調節機構およびその細胞系譜の解析Principal Investigator
- Principal Investigator
  
  才津浩智
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  General anatomy (including Histology/Embryology)
- Research Institution
  Yokohama City University
Molecular mechanisms of forebrain morphogenesis
- Principal Investigator
  
  ISHIBASHI Makoto
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  General anatomy (including Histology/Embryology)
- Research Institution
  Kyoto University

[Book] Epilepsy 「難治性てんかんと体細胞変異」2018
- Author(s)
  才津　浩智
- Total Pages
  75
- Publisher
  メディカルレビュー社
- Data Source
  KAKENHI-PROJECT-16H05160
[Book] 増刊号　臨床医が知っておきたい先天異常　「次世代シークエンスによる遺伝子診断の進歩」2013
- Author(s)
  才津　浩智
- Total Pages
  279
- Publisher
  日本小児医事出版社
- Data Source
  KAKENHI-PROJECT-25293085
[Book] 実験医学増刊ゲノム医学・生命科学研究「次世代シークエンサーによるメンデル遺伝性疾患の責任遺伝子解明2013
- Author(s)
  大場　ちひろ、才津　浩智、松本　直通
- Total Pages
  2543
- Publisher
  羊土社
- Data Source
  KAKENHI-PROJECT-25293085
[Book] Jasper's Basic Mechanisms of the Epilepsies.2012
- Author(s)
  Saitsu H, Kato M, Matsumoto N
- Total Pages
  11
- Publisher
  Oxford
- Data Source
  KAKENHI-PROJECT-24591500
[Journal Article] Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome2024
- Author(s)
  Samejima M, Nakashima M, Shibasaki J, ... , Kato M, et al.
- Journal Title
  
  Brain and Development
  
  Volume: 46 Issue: 3 Pages: 154-159
- DOI
  10.1016/j.braindev.2023.11.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
[Journal Article] Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion2024
- Author(s)
  Tsuchiya Mitsuteru、Bunai Tomoyasu、Watanabe Kazuki、Saitsu Hirotomo、Goshima Satoshi
- Journal Title
  
  Clinical Nuclear Medicine
  
  Volume: 49 Issue: 3 Pages: 242-243
- DOI
  10.1097/rlu.0000000000005047
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K14750, KAKENHI-PROJECT-23K27566
[Journal Article] A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation2023
- Author(s)
  Akiyama Mari、Akiyama Tomoyuki、Saitsu Hirotomo、Tokioka Yukie、Tsukahara Rie、Tsuchiya Hiroki、Shibata Takashi、Kobayashi Katsuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 45 Issue: 10 Pages: 597-602
- DOI
  10.1016/j.braindev.2023.07.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27566
[Journal Article] RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing2023
- Author(s)
  Kawakami Ryota、Hiraide Takuya、Watanabe Kazuki、Miyamoto Sachiko、Hira Kota、Komatsu Kazuyuki、Ishigaki Hidetoshi、Sakaguchi Kimiyoshi、Maekawa Masato、Yamashita Keita、Fukuda Tokiko、Miyairi Isao、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 69 Issue: 2 Pages: 91-99
- DOI
  10.1038/s10038-023-01211-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K14944, KAKENHI-PROJECT-22K20852, KAKENHI-PROJECT-23K27566
[Journal Article] Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.2023
- Author(s)
  Masunaga Y, Fujisawa Y, Massart F, Spinelli C, Kojima Y, Mizuno K, Hayashi Y, Sasagawa I, Yoshida R, Kato F, Fukami M, Kamatani N, Saitsu H, Ogata T.
- Journal Title
  
  J Clin Endocrinol Metab.
  
  Volume: Apr 3 Issue: 10 Pages: 1-11
- DOI
  10.1210/clinem/dgad187
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08255, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K09351, KAKENHI-PROJECT-23K27729
[Journal Article] Two novel cases of biallelic SMPD4 variants with brain structural abnormalities2023
- Author(s)
  Aoki S, Watanabe K, Kato M, et al.
- Journal Title
  
  neurogenetics
  
  Volume: 25 Issue: 1 Pages: 3-11
- DOI
  10.1007/s10048-023-00737-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
[Journal Article] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome2023
- Author(s)
  Miyamoto Sachiko、Nakamura Kazuyuki、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Annals of Human Genetics
  
  Volume: - Issue: 4 Pages: 196-202
- DOI
  10.1111/ahg.12507
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
[Journal Article] Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome2023
- Author(s)
  Yoh Yuri、Shiohama Tadashi、Uchida Tomoko、Ebata Ryota、Kobayashi Hironobu、Okunushi Kentaro、Kato Mitsuhiro、Watanabe Kazuki、Nakashima Mitsuko、Saitsu Hirotomo、Hamada Hiromichi
- Journal Title
  
  Frontiers in Genetics
  
  Volume: 14
- DOI
  10.3389/fgene.2023.1221745
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K27566
[Journal Article] The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.2023
- Author(s)
  Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y.
- Journal Title
  
  Int J Mol Sci
  
  Volume: 24 Issue: 18 Pages: 13678-13678
- DOI
  10.3390/ijms241813678
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K19606, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-23K09041, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-23K27566
[Journal Article] A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome2023
- Author(s)
  Hiraide Takuya、Akita Tenpei、Uematsu Kenji、Miyamoto Sachiko、Nakashima Mitsuko、Sasaki Masayuki、Fukuda Atsuo、Kato Mitsuhiro、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 1 Pages: 25-31
- DOI
  10.1038/s10038-022-01090-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06766, KAKENHI-PUBLICLY-21H05687, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661
[Journal Article] Cnpy3 mice reveal neuronal expression of Cnpy3 in the brain2023
- Author(s)
  Islam Md. Monirul、Mutoh Hiroki、Aoto Kazushi、Belal Hazrat、Saitsu Hirotomo
- Journal Title
  
  Journal of Neuroscience Methods
  
  Volume: 383 Pages: 109730-109730
- DOI
  10.1016/j.jneumeth.2022.109730
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423
[Journal Article] Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan2023
- Author(s)
  Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, Saitsu H, Matsumoto N, Kurosawa K, Goto T
- Journal Title
  
  Front Neurol
  
  Volume: 14 Pages: 1085228-1085228
- DOI
  10.3389/fneur.2023.1085228
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27566
[Journal Article] PORCN-related microphthalmia with limb anomalies: case report and literature review.2023
- Author(s)
  Fukahori K, Yamoto K, Saitsu H, Ogata T, Nagasaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 191(2) Issue: 2 Pages: 636-639
- DOI
  10.1002/ajmg.a.63048
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Journal Article] A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR12023
- Author(s)
  Watanabe Kazuki、Kubota Kazuo、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Human Genome Variation
  
  Volume: 10 Issue: 1
- DOI
  10.1038/s41439-023-00256-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K27566
[Journal Article] The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus2023
- Author(s)
  Kobayashi Yu、Tohyama Jun、Akasaka Noriyuki、Yamada Kei、Hojo Moemi、Seki Eijun、Miura Masaki、Soma Noriko、Ono Takeshi、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Human Genome Variation
  
  Volume: 10 Issue: 1
- DOI
  10.1038/s41439-023-00247-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K27566
[Journal Article] Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence2023
- Author(s)
  Furukawa Shogo、Kato Mitsuhiro、Nomura Toshihiro、Sumitomo Noriko、Yoneno Shota、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 194 Issue: 3
- DOI
  10.1002/ajmg.a.63453
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27566
[Journal Article] Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling2023
- Author(s)
  Higashijima Takefumi、Shirozu Hiroshi、Saitsu Hirotomo、Sonoda Masaki、Fujita Atsushi、Masuda Hiroshi、Yamamoto Tetsuya、Matsumoto Naomichi、Kameyama Shigeki
- Journal Title
  
  Heliyon
  
  Volume: 9 Issue: 4 Pages: e14712-e14712
- DOI
  10.1016/j.heliyon.2023.e14712
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-22K16664
[Journal Article] Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)2022
- Author(s)
  Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
- Journal Title
  
  Scientific Reports
  
  Volume: 12 Issue: 1 Pages: 17079-17079
- DOI
  10.1038/s41598-022-21751-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K20898, KAKENHI-PROJECT-20H03641
[Journal Article] Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus2022
- Author(s)
  Sayaka Kawashima, Akiko Yuno, Shinichiro Sano, Masayo Kagami
- Journal Title
  
  J Bone Miner Res .
  
  Volume: 10 Issue: 10 Pages: 1850-1859
- DOI
  10.1002/jbmr.4652
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08178, KAKENHI-PROJECT-21K07334, KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PUBLICLY-21H00342, KAKENHI-PROJECT-23K24490
[Journal Article] Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and β Proteins2022
- Author(s)
  Aoto Kazushi、Takabayashi Shuji、Mutoh Hiroki、Saitsu Hirotomo
- Journal Title
  
  International Journal of Molecular Sciences
  
  Volume: 23 Issue: 19 Pages: 11915-11915
- DOI
  10.3390/ijms231911915
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423
[Journal Article] Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy2022
- Author(s)
  Sakata Yuka、Sano Kentaro、Aoki Shintaro、Saitsu Hirotomo、Takanashi Jun-ichi
- Journal Title
  
  Brain and Development
  
  Volume: - Issue: 6 Pages: 415-420
- DOI
  10.1016/j.braindev.2022.02.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K08237
[Journal Article] A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia2022
- Author(s)
  Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  Am J Med Genet A
  
  Volume: - Issue: 5 Pages: 1612-1617
- DOI
  10.1002/ajmg.a.62649
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Journal Article] De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities2022
- Author(s)
  Nakashima Mitsuko、Argilli Emanuela、Nakano Sayaka、Sherr Elliott H.、Kato Mitsuhiro、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 4 Pages: 291-298
- DOI
  10.1038/s10038-022-01106-0
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06819, KAKENHI-PROJECT-20H03641
[Journal Article] Characterization of KMT2A :: MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.2022
- Author(s)
  Komatsu K, Sakaguchi K, Shimizu D, Yamoto K, Kato F, Ogata T, Saitsu H
- Journal Title
  
  Pediatr Blood Cancer
  
  Volume: e30120 Issue: 4
- DOI
  10.1002/pbc.30120
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Two novel heterozygous variants in ATP1A3 cause movement disorders2022
- Author(s)
  Furukawa Shogo、Miyamoto Sachiko、Fukumura Shinobu、Kubota Kazuo、Taga Toshiaki、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1
- DOI
  10.1038/s41439-022-00184-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report2022
- Author(s)
  Kurata K, Hosono K, Takayama M, Tatsuno M, Saitsu H, Ogata T, Hotta Y
- Journal Title
  
  Am J Ophthalmol Case Rep
  
  Volume: - Pages: 101298-101298
- DOI
  10.1016/j.ajoc.2022.101298
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K18340
[Journal Article] Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing2022
- Author(s)
  Hiraide Takuya、Shimizu Kenji、Miyamoto Sachiko、Aoto Kazushi、Nakashima Mitsuko、Yamaguchi Tomomi、Kosho Tomoki、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 7 Pages: 387-392
- DOI
  10.1038/s10038-022-01016-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K21570, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243
[Journal Article] Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation2022
- Author(s)
  Matsushita Hiroko Baber、Hiraide Takuya、Hayakawa Katsumi、Okano Sozo、Nakashima Mitsuko、Saitsu Hirotomo、Kato Mitsuhiro
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 2 Pages: 161-165
- DOI
  10.1016/j.braindev.2021.10.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
[Journal Article] A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome2022
- Author(s)
  Komatsu Kazuyuki、Fukumura Shinobu、Minagawa Kimio、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 7 Pages: 474-479
- DOI
  10.1016/j.braindev.2022.03.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ2022
- Author(s)
  Mutoh H, Aoto K, Miyazaki T, Fukuda A, Saitsu H.
- Journal Title
  
  Journal of Neuroscience Research
  
  Volume: 100 Issue: 3 Pages: 880-896
- DOI
  10.1002/jnr.25013
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PUBLICLY-21H05687, KAKENHI-PROJECT-19H01091, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423
[Journal Article] Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa2022
- Author(s)
  Tachibana Nobutaka、Hosono Katsuhiro、Nomura Shuhei、Arai Shinji、Torii Kaoruko、Kurata Kentaro、Sato Miho、Shimakawa Shuichi、Azuma Noriyuki、Ogata Tsutomu、Wada Yoshinao、Okamoto Nobuhiko、Saitsu Hirotomo、Nishina Sachiko、Hotta Yoshihiro
- Journal Title
  
  Genes
  
  Volume: 13 Issue: 2 Pages: 359-359
- DOI
  10.3390/genes13020359
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03810, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-22K19606
[Journal Article] A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia2022
- Author(s)
  Hashiguchi Marina、Monden Yukifumi、Nozaki Yasuyuki、Watanabe Kazuki、Nakashima Mitsuko、Saitsu Hirotomo、Yamagata Takanori、Osaka Hitoshi
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 19-19
- DOI
  10.1038/s41439-022-00198-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-22K12868, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K17016
[Journal Article] An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation2022
- Author(s)
  Miyamoto Sachiko、Nakashima Mitsuko、Fukumura Shinobu、Kumada Satoko、Saitsu Hirotomo
- Journal Title
  
  neurogenetics
  
  Volume: 23 Issue: 2 Pages: 129-135
- DOI
  10.1007/s10048-022-00686-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo2022
- Author(s)
  Watanabe Kazuki、Nakashima Mitsuko、Wakatsuki Rie、Bunai Tomoyasu、Ouchi Yasuomi、Nakamura Tomohiko、Miyajima Hiroaki、Saitsu Hirotomo
- Journal Title
  
  Neurology Genetics
  
  Volume: 8 Issue: 3
- DOI
  10.1212/nxg.0000000000000682
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] ACAN biallelic variants in a girl with severe idiopathic short stature2022
- Author(s)
  Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 8 Pages: 481-486
- DOI
  10.1038/s10038-022-01030-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata2022
- Author(s)
  Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, Nakashima M, Saitsu H, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 5 Pages: 303-306
- DOI
  10.1038/s10038-021-01000-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>2022
- Author(s)
  Abe Kazuo、Ando Kumiko、Kato Mitsuhiro、Saitsu Hirotomo、Nakashima Mitsuko、Aoki Shintaro、Kimura Takashi
- Journal Title
  
  Neurology Genetics
  
  Volume: 8 Issue: 3
- DOI
  10.1212/nxg.0000000000000680
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[Journal Article] Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing2021
- Author(s)
  Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saistu T
- Journal Title
  
  Clin Genet
  
  Volume: 100 Issue: 1 Pages: 40-50
- DOI
  10.1111/cge.13951
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09916
[Journal Article] Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies2021
- Author(s)
  Miyamoto Sachiko、Kato Mitsuhiro、et al and Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 11 Pages: 1061-1068
- DOI
  10.1038/s10038-021-00932-y
- NAID
  120007167202
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
[Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice2021
- Author(s)
  Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
- Journal Title
  
  Nat Commun
  
  Volume: 12 Issue: 1 Pages: 2107-2107
- DOI
  10.1038/s41467-021-22389-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-19H01091, KAKENHI-PUBLICLY-21H05687, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
[Journal Article] ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance2021
- Author(s)
  Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T
- Journal Title
  
  Clin Epigenetics
  
  Volume: 13 Issue: 1 Pages: 119-119
- DOI
  10.1186/s13148-021-01106-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.2021
- Author(s)
  Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M.
- Journal Title
  
  Epilepsy Behav Rep.
  
  Volume: 15 Pages: 100417-100417
- DOI
  10.1016/j.ebr.2020.100417
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08223, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[Journal Article] A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies2021
- Author(s)
  Miyamoto Sachiko、Kato Mitsuhiro、Sugiyama Kenji、Horiguchi Ryo、Nakashima Mitsuko、Aoto Kazushi、Mutoh Hiroki、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 12 Pages: 1189-1192
- DOI
  10.1038/s10038-021-00953-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K08236
[Journal Article] Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review2021
- Author(s)
  Watanabe Kazuki、Nakashima Mitsuko、Kumada Satoko、Mashimo Hideaki、Enokizono Mikako、Yamada Keitaro、Kato Mitsuhiro、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 12 Pages: 1193-1197
- DOI
  10.1038/s10038-021-00956-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
[Journal Article] Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance2021
- Author(s)
  Hiraide Takuya、Fukumura Shinobu、Yamamoto Akiyo、Nakashima Mitsuko、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 3 Pages: 470-474
- DOI
  10.1016/j.braindev.2020.10.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation2021
- Author(s)
  Hiraide Takuya、Wada Yoshinao、Matsubayashi Tomoko、Kadoya Machiko、Masunaga Yohei、Ohkubo Yumiko、Nakashima Mitsuko、Okamoto Nobuhiko、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 9 Pages: 945-951
- DOI
  10.1016/j.braindev.2021.05.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation2021
- Author(s)
  Negishi Yutaka、Aoki Yusuke、Itomi Kazuya、Yasuda Kazushi、Taniguchi Hiroaki、Ishida Atsushi、Arakawa Takeshi、Miyamoto Sachiko、Nakashima Mitsuko、Saitsu Hirotomo、Saitoh Shinji
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 7 Pages: 804-808
- DOI
  10.1016/j.braindev.2021.03.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-21K15885
[Journal Article] Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome2021
- Author(s)
  Akaba Yuichi、Takahashi Satoru、Takeguchi Ryo、Tanaka Ryosuke、Nabatame Shin、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Clinical Case Reports
  
  Volume: 9 Issue: 3 Pages: 1711-1715
- DOI
  10.1002/ccr3.3883
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction2021
- Author(s)
  Anzai Rie、Tsuji Megumi、Yamashita Sumimasa、Wada Yoshinao、Okamoto Nobuhiko、Saitsu Hirotomo、Matsumoto Naomichi、Goto Tomohide
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 3 Pages: 402-410
- DOI
  10.1016/j.braindev.2020.10.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.2021
- Author(s)
  Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 12 Pages: 1185-1187
- DOI
  10.1038/s10038-021-00948-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] POLR3A variants in striatal involvement without diffuse hypomyelination2020
- Author(s)
  Hiraide Takuya、Kubota Kazuo、Kono Yu、Watanabe Seiji、Matsubayashi Tomoko、Nakashima Mitsuko、Kaname Tadashi、Fukao Toshiyuki、Shimozawa Nobuyuki、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 4 Pages: 363-368
- DOI
  10.1016/j.braindev.2019.12.012
- NAID
  120007038334
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-20H03641
[Journal Article] A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS)2020
- Author(s)
  Nishikawa Aiko、Otani Yui、Ito Susumu、Nagata Satoru、Shiota Mutsuki、Takanashi Jun-ichi、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Oguni Hirokazu
- Journal Title
  
  Epileptic Disorders
  
  Volume: 22 Issue: 4 Pages: 476-481
- DOI
  10.1684/epd.2020.1183
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20H03641
[Journal Article] Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant2020
- Author(s)
  Kobayashi Hironobu、Shiohama Tadashi、Nakashima Mitsuko、Saitsu Hirotomo、Suga Yasushi、Ebata Ryota、Shimojo Naoki
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Issue: 8 Pages: 1933-1938
- DOI
  10.1002/ajmg.a.61626
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN12020
- Author(s)
  Hayashi Takaaki、Hosono Katsuhiro、Kubo Akiko、Kurata Kentaro、Katagiri Satoshi、Mizobuchi Kei、Kurai Minehiro、Mamiya Norihito、Kondo Mineo、Tachibana Toshiaki、Saitsu Hirotomo、Ogata Tsutomu、Nakano Tadashi、Hotta Yoshihiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 印刷中 Issue: 6 Pages: 1500-1505
- DOI
  10.1002/ajmg.a.61575
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-20H03641
[Journal Article] De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms2020
- Author(s)
  Nakashima Mitsuko、Kato Mitsuhiro、Matsukura Masaru、Kira Ryutaro、Ngu Lock-Hock、Lichtenbelt Klaske D.、van Gassen Koen L. I.、Mitsuhashi Satomi、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 9 Pages: 727-734
- DOI
  10.1038/s10038-020-0758-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[Journal Article] A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features2020
- Author(s)
  Fukuda Tokiko、Hiraide Takuya、Yamoto Kaori、Nakashima Mitsuko、Kawai Tomoko、Yanagi Kumiko、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 4 Pages: 103804-103804
- DOI
  10.1016/j.ejmg.2019.103804
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2020
- Author(s)
  Sakamoto Masamune、Iwama Kazuhiro、Sekiguchi Futoshi、Mashimo Hideaki、Kumada Satoko、Ishigaki Keiko、Okamoto Nobuhiko、Behnam Mahdiyeh、Ghadami Mohsen、Koshimizu Eriko、Miyatake Satoko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Saitsu Hirotomo、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 4 Pages: 401-407
- DOI
  10.1038/s10038-020-00853-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08164
[Journal Article] De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies2020
- Author(s)
  Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Fumiaki Tanaka
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 416 Pages: 117047-117047
- DOI
  10.1016/j.jns.2020.117047
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014
[Journal Article] Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy2020
- Author(s)
  Hiraide Takuya、Nakashima Mitsuko、Ikeda Takahiro、Tanaka Daisuke、Osaka Hitoshi、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 10 Pages: 921-925
- DOI
  10.1038/s10038-020-0786-y
- NAID
  120007143500
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay2020
- Author(s)
  Ikemoto Satoru、Hamano Shin-ichiro、Kikuchi Kenjiro、Koichihara Reiko、Hirata Yuko、Matsuura Ryuki、Hiraide Takuya、Nakashima Mitsuko、Inoue Ken、Kurosawa Kenji、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 8 Pages: 603-606
- DOI
  10.1016/j.braindev.2020.06.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency2020
- Author(s)
  Andelman-Gur Michal M.、Saitsu Hirotomo、Matsumoto Naomichi、Spiegel Ronen、Yosovich Keren、Lev Dorit、Lerman-Sagie Tally、Blumkin Lubov
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 12 Pages: 104061-104061
- DOI
  10.1016/j.ejmg.2020.104061
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03641
[Journal Article] POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy2020
- Author(s)
  Kashiki Hitoshi、Li Heng、Miyamoto Sachiko、Ueno Hiroe、Tsurusaki Yoshinori、Ikeda Chizuru、Kurata Hirofumi、Okada Takumi、Shimazu Tomoyuki、Imamura Hoseki、Enomoto Yumi、Takanashi Jun-ichi、Kurosawa Kenji、Saitsu Hirotomo、Inoue Ken
- Journal Title
  
  Neurology Genetics
  
  Volume: 6 Issue: 6 Pages: 1-7
- DOI
  10.1212/nxg.0000000000000524
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-19K08358, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K22606
[Journal Article] De novo PHACTR1 mutations in West syndrome and their pathophysiological effects2018
- Author(s)
  Hamada Nanako、Ogaya Shunsuke、Nakashima Mitsuko、Nishijo Takuma、Sugawara Yuji、Iwamoto Ikuko、Ito Hidenori、Maki Yuki、Shirai Kentaro、Baba Shimpei、Maruyama Koichi、Saitsu Hirotomo、Kato Mitsuhiro、Matsumoto Naomichi、Momiyama Toshihiko、Nagata Koh-ichi
- Journal Title
  
  Brain
  
  Volume: 141 Pages: 3098-3114
- DOI
  10.1093/brain/awy246
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K07063, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Biallelic Variants in CNPY3 , Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy2018
- Author(s)
  Mutoh Hiroki、Kato Mitsuhiro、Akita Tenpei、Shibata Takuma、Wakamoto Hiroyuki、Ikeda Hiroko、Kitaura Hiroki、Aoto Kazushi、Nakashima Mitsuko、Wang Tianying、Ohba Chihiro、Miyatake Satoko、Miyake Noriko、Kakita Akiyoshi、Miyake Kensuke、Fukuda Atsuo、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 102 Issue: 2 Pages: 321-329
- DOI
  10.1016/j.ajhg.2018.01.004
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-17K19682, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-PROJECT-16H06388, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-15K06751, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-16H06276
[Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy2018
- Author(s)
  Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Mutation
  
  Volume: 39 Issue: 8 Pages: 1070-1075
- DOI
  10.1002/humu.23550
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.2018
- Author(s)
  Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
- Journal Title
  
  Seizure.
  
  Volume: 60 Pages: 91-93
- DOI
  10.1016/j.seizure.2018.06.012
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy2018
- Author(s)
  Suzuki-Muromoto S# (#: correspondence), Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63 Issue: 6 Pages: 749
- DOI
  10.1038/s10038-018-0432-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies2018
- Author(s)
  Saikusa Tomoko、Hara Munetsugu、Iwama Kazuhiro、Yuge Kotaro、Ohba Chihiro、Okada Jun-ichiro、Hisano Tadashi、Yamashita Yushiro、Okamoto Nobuhiko、Saitsu Hirotomo、Matsumoto Naomichi、Matsuishi Toyojiro
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 5 Pages: 406-409
- DOI
  10.1016/j.braindev.2017.12.013
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-17H01539
[Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders2018
- Author(s)
  Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 27 Issue: 8 Pages: 1421-1433
- DOI
  10.1093/hmg/ddy052
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-17K15630
[Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy2018
- Author(s)
  Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 538-547
- DOI
  10.1111/cge.13454
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders2018
- Author(s)
  Akita Tenpei、Aoto Kazushi、Kato Mitsuhiro、Shiina Masaaki、Mutoh Hiroki、Nakashima Mitsuko、Kuki Ichiro、Okazaki Shin、Magara Shinichi、Shiihara Takashi、Yokochi Kenji、Aiba Kaori、Tohyama Jun、Ohba Chihiro、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Fukuda Atsuo、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 5 Issue: 3 Pages: 280-296
- DOI
  10.1002/acn3.528
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-17K19682, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-16H03293
[Journal Article] PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.2018
- Author(s)
  Shiraku H#, Nakashima M#, Takeshita S# (# denotes equal contribution), Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N*, Kato M* (*: co-correspondence).
- Journal Title
  
  Epilepsia Open.
  
  Volume: 3(4) Issue: 4 Pages: 495-502
- DOI
  10.1002/epi4.12272
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Detection of copy number variations in epilepsy using exome data2018
- Author(s)
  Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Mizuguchi T. et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 3 Pages: 577-587
- DOI
  10.1111/cge.13144
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
[Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy2018
- Author(s)
  Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Annals of Neurology
  
  Volume: 83 Issue: 4 Pages: 794-806
- DOI
  10.1002/ana.25208
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17K15630
[Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018
- Author(s)
  Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Genetics
  
  Volume: 137 Issue: 1 Pages: 95-104
- DOI
  10.1007/s00439-017-1863-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204
[Journal Article] wo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.2018
- Author(s)
  Takeguchi R#, Haginoya K# (# denotes equal contribution), Uchiyama Y, Fujita A, Nagura M, Takeshita E*, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.
- Journal Title
  
  Brain Dev.
  
  Volume: 40(8) Issue: 8 Pages: 728-732
- DOI
  10.1016/j.braindev.2018.04.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17H06994
[Journal Article] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation2018
- Author(s)
  Kojima K、Shirai K、Kobayashi M、Miyauchi A、Saitsu H、Matsumoto N、Osaka H、Yamagata T
- Journal Title
  
  Brain and Development
  
  Volume: 40 Issue: 1 Pages: 69-73
- DOI
  10.1016/j.braindev.2017.06.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] A male case with CDKL5 -associated encephalopathy manifesting transient methylmalonic acidemia2018
- Author(s)
  Akamine Satoshi、Ishizaki Yoshito、Sakai Yasunari、Torisu Hiroyuki、Fukai Ryoko、Miyake Noriko、Ohkubo Kazuhiro、Koga Hiroshi、Sanefuji Masafumi、Sakata Ayumi、Kimura Masahiko、Yamaguchi Seiji、Sakamoto Osamu、Hara Toshiro、Saitsu Hirotomo、Matsumoto Naomichi、Ohga Shouichi
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: in press Issue: 8 Pages: 451-454
- DOI
  10.1016/j.ejmg.2018.03.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-16H05160
[Journal Article] Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan2018
- Author(s)
  Takashima Shigeo、Saitsu Hirotomo、Shimozawa Nobuyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 2 Pages: 145-152
- DOI
  10.1038/s10038-018-0512-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy2018
- Author(s)
  Fassio Anna、Esposito Alessandro、Kato Mitsuhiro、Saitsu Hirotomo、et al.
- Journal Title
  
  Brain
  
  Volume: 141 Issue: 6 Pages: 1703-1718
- DOI
  10.1093/brain/awy092
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160
[Journal Article] Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.2018
- Author(s)
  Kohashi K, Ishiyama A*, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M.
- Journal Title
  
  Brain Dev
  
  Volume: 40(1) Issue: 1 Pages: 53-57
- DOI
  10.1016/j.braindev.2017.06.005
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PLANNED-17H06422
[Journal Article] A patient with Muenke syndrome manifesting migrating neonatal seizures2017
- Author(s)
  Okubo Y*, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K.
- Journal Title
  
  Brain Dev
  
  Volume: 39 Issue: 10 Pages: 873
- DOI
  10.1016/j.braindev.2017.05.007
- URL
  https://pure.teikyo.jp/en/publications/c0d57a31-9ae5-4165-ad95-ff7f08399f13
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.2017
- Author(s)
  Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K.
- Journal Title
  
  J Hum Genet.
  
  Volume: - Issue: 6 Pages: 653-655
- DOI
  10.1038/jhg.2017.11
- NAID
  40021196214
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.2017
- Author(s)
  Kimizu T, Takahashi Y, Oboshi T, Horino A, Koike T, Yoshitomi S, Mori T, Yamaguchi T, Ikeda H, Okamoto N, Nakashima M, Saitsu H, Kato M, Matsumoto N, Imai K.
- Journal Title
  
  Brain Dev.
  
  Volume: 39 Issue: 3 Pages: 256-260
- DOI
  10.1016/j.braindev.2016.09.009
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.2017
- Author(s)
  Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 39 Issue: 3 Pages: 266-270
- DOI
  10.1016/j.braindev.2016.09.011
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder2017
- Author(s)
  Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 5 Pages: 525-529
- DOI
  10.1038/jhg.2016.163
- NAID
  40021210259
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H03293
[Journal Article] Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum2017
- Author(s)
  Yoshida M.、Nakashima M.、Okanishi T.、Kanai S.、Fujimoto A.、Itomi K.、Morimoto M.、Saitsu H.、Kato M.、Matsumoto N.、Chiyonobu T.
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 2 Pages: 368-373
- DOI
  10.1111/cge.13067
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-15K09628
[Journal Article] Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.2017
- Author(s)
  Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE.
- Journal Title
  
  Hum Mutat
  
  Volume: 38(11) Issue: 11 Pages: 1542-1554
- DOI
  10.1002/humu.23303
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357
[Journal Article] Three cases of KCNT1 mutations: malignant migrating partial seizures in infancy with massive systemic to pulmonary collateral arteries.2017
- Author(s)
  *Kawasaki Y, Kuki I, Ehara E, Murakami Y, Okazaki S, Kawawaki H, Hara M, Watanabe Y, Kishimoto S, Suda K, Saitsu H, Matsumoto N.
- Journal Title
  
  J Pediatr
  
  Volume: 191 Pages: 270-274
- DOI
  10.1016/j.jpeds.2017.08.057
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
[Journal Article] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy2017
- Author(s)
  Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 2 Pages: 266-274
- DOI
  10.1111/cge.13061
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
[Journal Article] Quinidine therapy for West syndrome with KCNTI mutation2017
- Author(s)
  Fukuoka M, Kuki I, Kawawaki H, Okazaki S, Kim K, Hattori Y, Tsuji H, Nukui M, Inoue T, Yoshida Y, Uda T, Kimura S, Mogami Y, Suzuki Y, Okamoto N, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 39 Issue: 1 Pages: 80-83
- DOI
  10.1016/j.braindev.2016.08.002
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] The first report of Japanese patients with asparagine synthetase deficiency2017
- Author(s)
  Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T
- Journal Title
  
  Brain Development
  
  Volume: 39 Issue: 3 Pages: 236-242
- DOI
  10.1016/j.braindev.2016.09.010
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-16K19637, KAKENHI-PROJECT-16H03293
[Journal Article] Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.2017
- Author(s)
  Fox J, Ben-Shachar S, Uliel S, Svirsky R, Saitsu H, Matsumoto N, Fattal-Valevski A.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 173 Issue: 3 Pages: 744-748
- DOI
  10.1002/ajmg.a.38027
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.2017
- Author(s)
  Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: - Issue: 2 Pages: 180-187
- DOI
  10.1111/cge.12991
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-16K09665, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05357
[Journal Article] Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations2016
- Author(s)
  Inui T, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 5 Pages: 520
- DOI
  10.1016/j.braindev.2015.11.003
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay2016
- Author(s)
  Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 24 Issue: 1 Pages: 129
- DOI
  10.1038/ejhg.2015.92
- URL
  https://pure.teikyo.jp/en/publications/06a45aed-f2e5-424a-b8d1-3e9a6923fdc5
- Language
  English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25461539, KAKENHI-PROJECT-26860781, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Characterization of SPATA5-related encephalopathy in early childhood.2016
- Author(s)
  Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M.
- Journal Title
  
  Clinical Genetics
  
  Volume: 90 Issue: 5 Pages: 437-444
- DOI
  10.1111/cge.12813
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05160
[Journal Article] Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation.2016
- Author(s)
  Chong PF, Nakamura R, Saitsu H, Matsumoto N, Kira R.
- Journal Title
  
  Ann Neurol.
  
  Volume: 79 Issue: 3 Pages: 502-3
- DOI
  10.1002/ana.24598
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085
[Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.2016
- Author(s)
  Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 30072-30072
- DOI
  10.1038/srep30072
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-16K08523, KAKENHI-INTERNATIONAL-15K21731
[Journal Article] Association between invisible basal ganglia and ZNF335 mutations: a case report2016
- Author(s)
  Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T
- Journal Title
  
  Pediatrics
  
  Volume: 138 Issue: 3
- DOI
  10.1542/peds.2016-0897
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K10329
[Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.2016
- Author(s)
  Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
- Journal Title
  
  Ann Clin Transl Neurol.
  
  Volume: 24 Issue: 5 Pages: 356-65
- DOI
  10.1002/acn3.300
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660
[Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016
- Author(s)
  Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 98 Issue: 4 Pages: 615-626
- DOI
  10.1016/j.ajhg.2016.02.007
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860781, KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16K19626
[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders2016
- Author(s)
  Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain and Development
  
  Volume: 38 Issue: 3 Pages: 285-292
- DOI
  10.1016/j.braindev.2015.09.011
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26670505
[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016
- Author(s)
  Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 7 Pages: 285-92
- DOI
  10.1038/jhg.2016.27
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K10367
[Journal Article] DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.2016
- Author(s)
  Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.
- Journal Title
  
  Clinical Genetics
  
  Volume: 90 Issue: 5 Pages: 472-474
- DOI
  10.1111/cge.12805
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09973
[Journal Article] SPTAN1 encephalopathy: distinct phenotypes and genotypes2015
- Author(s)
  Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60(4) Issue: 4 Pages: 167-173
- DOI
  10.1038/jhg.2015.5
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085
[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015
- Author(s)
  Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
- Journal Title
  
  Epilepsia
  
  Volume: 印刷中 Issue: 6 Pages: 841-848
- DOI
  10.1111/epi.12987
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015
- Author(s)
  Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
- Journal Title
  
  Sci Rep
  
  Volume: 5 Issue: 1 Pages: 15199-15199
- DOI
  10.1038/srep15199
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26670512, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-15H05872, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-15H05871
[Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy.2015
- Author(s)
  Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 56(9) Issue: 9
- DOI
  10.1111/epi.13072
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-26860832, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2015
- Author(s)
  Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: Epub 2015 Nov 27. Issue: 1
- DOI
  10.1111/epi.13257
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
- Journal Title
  
  Ann. Neurol.
  
  Volume: 78 Issue: 3 Pages: 375-386
- DOI
  10.1002/ana.24444
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06736, KAKENHI-PROJECT-15K06751, KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-25430064, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Pages: 97-101
- NAID
  40020368024
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085
[Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features2014
- Author(s)
  Kato M, Saitsu H, Murakami Y , Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
- Journal Title
  
  Neurology
  
  Volume: 82（18） Issue: 18 Pages: 1587-1596
- DOI
  10.1212/wnl.0000000000000389
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014
- Author(s)
  Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 7 Pages: 994-1000
- DOI
  10.1111/epi.12668
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.2014
- Author(s)
  Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 Issue: 12 Pages: 687-690
- DOI
  10.1038/jhg.2014.91
- NAID
  40020308684
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy2014
- Author(s)
  Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
- Journal Title
  
  Clin Genet
  
  Volume: 87(4) Issue: 4 Pages: 356-361
- DOI
  10.1111/cge.12394
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25860915
[Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014
- Author(s)
  Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 2 Pages: 13-17
- DOI
  10.1111/epi.12508
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816
[Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014
- Author(s)
  Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（8） Issue: 8 Pages: 471-474
- DOI
  10.1038/jhg.2014.51
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy2014
- Author(s)
  Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-Fukuyo N, Kobayashi T, Iwasaki M, T ominaga T, Kure S, Matsumoto N
- Journal Title
  
  Brain Dev
  
  Volume: 36(6) Issue: 6 Pages: 532-6
- DOI
  10.1016/j.braindev.2013.07.009
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25293085
[Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014
- Author(s)
  Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
- Journal Title
  
  Neurogenet
  
  Volume: 15（3） Issue: 3 Pages: 193-200
- DOI
  10.1007/s10048-014-0408-y
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013
- Author(s)
  Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
- Journal Title
  
  Neurology
  
  Volume: 81 Issue: 11 Pages: 992-998
- DOI
  10.1212/wnl.0b013e3182a43e57
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly2013
- Author(s)
  Yoneda Y, Haginoya K,…..*Saitsu H
- Journal Title
  
  Ann Neurol
  
  Volume: 73(1):48-57 Issue: 1 Pages: 48-57
- DOI
  10.1002/ana.23736
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25860877
[Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013
- Author(s)
  Kato M, …Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: in press Issue: 7 Pages: 1282-7
- DOI
  10.1111/epi.12200
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013
- Author(s)
  Nakamura, K., et al.,
- Journal Title
  
  Am. J. Hum. Genet.
  
  Volume: 93 Issue: 3 Pages: 496-505
- DOI
  10.1016/j.ajhg.2013.07.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500444, KAKENHI-PROJECT-23612008, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24659508, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013
- Author(s)
  Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
- Journal Title
  
  Hum Mutat
  
  Volume: 34 Issue: 12 Pages: 1708-1714
- DOI
  10.1002/humu.22446
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-23591497, KAKENHI-PUBLICLY-24110501, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013
- Author(s)
  Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: 54 Issue: 7 Pages: 1262-1269
- DOI
  10.1111/epi.12203
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Clinical Genetics
  
  Volume: 81(4):399-402 Issue: 4 Pages: 86-90
- DOI
  10.1111/j.1399-0004.2011.01733.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
[Journal Article] Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation2012
- Author(s)
  Nonoda Y,…Saitsu H.
- Journal Title
  
  Brain Dev
  
  Volume: 31 Issue: 3 Pages: 280-283
- DOI
  10.1016/j.braindev.2012.05.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011
[Journal Article] A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL52012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Brain Dev
  
  Volume: 34(5):364-7 Issue: 5 Pages: 364-367
- DOI
  10.1016/j.braindev.2011.07.004
- NAID
  10031050724
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-ORGANIZER-24118001
[Journal Article] Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy2012
- Author(s)
  Hamdan F, Saitsu H (Co-first Author) et al.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 20(7):796-800 Issue: 7 Pages: 796-800
- DOI
  10.1038/ejhg.2011.271
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-ORGANIZER-24118001
[Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Epilepsia
  
  Volume: 53(8):1441-1449 Issue: 8 Pages: 1441-1449
- DOI
  10.1111/j.1528-1167.2012.03548.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001
[Journal Article] Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation2012
- Author(s)
  Writzl K,…Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: 53(6):e106-10 Issue: 6
- DOI
  10.1111/j.1528-1167.2012.03437.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-ORGANIZER-24118001
[Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012
- Author(s)
  *Saitsu H et al.
- Journal Title
  
  Ann Neurol
  
  Volume: 72(2):298-300 Issue: 2 Pages: 298-300
- DOI
  10.1002/ana.23620
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly2011
- Author(s)
  Yoneda Y, et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Issue: 1 Pages: 86-90
- DOI
  10.1016/j.ajhg.2011.11.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
[Journal Article] Paternal mosaicism of a STXBP1 mutation in Ohtahara syndrome2011
- Author(s)
  Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N.
- Journal Title
  
  Clin Genet
  
  Volume: 80(5) Pages: 484-488
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, et al., Nishiyama K, et al
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 158 Pages: 199-205
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy2011
- Author(s)
  Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(11) Issue: 11 Pages: 2879-2884
- DOI
  10.1002/ajmg.a.34289
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011
[Journal Article] SMOC1 is essential for ocular and limb development in humans and mice2011
- Author(s)
  Okada I, Hamanoue H,…*Saitsu H.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 7;88(1):30-41 Issue: 1 Pages: 30-41
- DOI
  10.1016/j.ajhg.2010.11.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2(SRGAP2)2011
- Author(s)
  Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 158(1) Pages: 199-205
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90(1) Pages: 86-90
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy2011
- Author(s)
  Saitsu H, et al., Nishiyama K
- Journal Title
  
  Am J Hum Genet
  
  Volume: 90 Pages: 86-90
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011
- Author(s)
  Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
- Journal Title
  
  Am J Med Genet A
  
  Volume: (in press) Issue: 1 Pages: 2879-84
- DOI
  10.1002/ajmg.a.34363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-24591500
[Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.2011
- Author(s)
  Saitsu H. et al.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 89 Issue: 5 Pages: 644-651
- DOI
  10.1016/j.ajhg.2011.10.003
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-21390103, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PUBLICLY-23112718, KAKENHI-PROJECT-23659531, KAKENHI-PROJECT-23687025, KAKENHI-PROJECT-23689052
[Journal Article] Paternal mosaicism of aSTXBP1 mutation in Ohtahara syndrome2011
- Author(s)
  Saitsu H, et al., Nishiyama K, et al
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 484-488
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Paternal mosaicism of an STXBP1 mutation in OS2011
- Author(s)
  Saitu H, Hayasaka K, et al
- Journal Title
  
  Clin Genet
  
  Volume: 80 Issue: 5 Pages: 484
- DOI
  10.1111/j.1399-0004.2010.01575.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011
[Journal Article] De novo mutations in epilepsy2011
- Author(s)
  才津浩智
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: 53(9) Issue: 9 Pages: 806-7
- DOI
  10.1111/j.1469-8749.2011.03994.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011
[Journal Article] SMOC1 is essential for ocular and limb development in humans and mice2011
- Author(s)
  kada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
- Journal Title
  
  Am J Hum Genet
  
  Volume: 88(1) Pages: 30-41
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern2010
- Author(s)
  Saitsu H, Hayasaka K, 他20人
- Journal Title
  
  Epilepsia
  
  Volume: 51 Issue: 12 Pages: 2397
- DOI
  10.1111/j.1528-1167.2010.02728.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011
[Journal Article] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern2010
- Author(s)
  Saitsu H, Kato M, Okada I, Orii KE, Kondo N, Wada T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Osaka H, Hayasaka K, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 51(12) Pages: 2397-2405
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] De novo deletion of 1q24. 3-q31. 2 in a patient with severe growth retardation.2010
- Author(s)
  Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  Am J Med Genet A. 152A(5)
  
  Pages: 1322-5
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.2010
- Author(s)
  才津浩智
- Journal Title
  
  Epilepsia
  
  Volume: 51 Pages: 2397-2405
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011
[Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.2010
- Author(s)
  Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T
- Journal Title
  
  Genesis 48(4)
  
  Pages: 233-43
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Dominant negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.2010
- Author(s)
  才津浩智
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86 Pages: 881-891
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011
[Journal Article] Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay2010
- Author(s)
  Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai SI, Ogata K, Kato M, Fukuda A, Matsumoto N
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86 Issue: 6 Pages: 881
- DOI
  10.1016/j.ajhg.2010.04.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-22689011
[Journal Article] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern.2010
- Author(s)
  Saitsu H, others, Nishiyama K, others.
- Journal Title
  
  Epilepsia
  
  Volume: 51 Pages: 2397-2405
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010
- Author(s)
  Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86(6) Pages: 881-889
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain.2010
- Author(s)
  Zhao L, Saitsu H, Sun X, Shiota K, Ishibashi M
- Journal Title
  
  Mech Dev 127(1-2)
  
  Pages: 62-72
- NAID
  120001887646
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.2010
- Author(s)
  Saitsu H, others, Nishiyama K, others.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 86 Pages: 881-889
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790333
[Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss2009
- Author(s)
  才津浩智
- Journal Title
  
  Am J Med Genet A. 149A(6)
  
  Pages: 1224-1230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split foot malformation and hearing loss.2009
- Author(s)
  Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
- Journal Title
  
  Am J Med Genet A 149A(6)
  
  Pages: 1224-1230
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Expression dynamics of the LIM-homeobox genes, Lhx1 and Lhx9, in the diencephalon during chick development.2008
- Author(s)
  Sun X, Saitsu H, Shiota K, Ishibashi M
- Journal Title
  
  Int J Dev Biol 52(1)
  
  Pages: 33-41
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  才津浩智
- Journal Title
  
  Nature Genetics 40(6)
  
  Pages: 782-788
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development.2008
- Author(s)
  Saitsu H, Shiota K
- Journal Title
  
  Congenit Anom (Kyoto) 48(1)
  
  Pages: 1-6
- NAID
  10027386860
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] CDKL5 disruption by t(X;18) in a girl with West syndrome.2008
- Author(s)
  Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N
- Journal Title
  
  Clin Genet 74(3)
  
  Pages: 288-90
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Hedgehog signaling is involved in development of the neocortex.2008
- Author(s)
  Komada M, Saitsu H, Kinboshi M, Miura T, Shiota K, Ishibashi M
- Journal Title
  
  Development 135(16)
  
  Pages: 2717-27
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.2008
- Author(s)
  Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
- Journal Title
  
  Nature Genetics 40(6)
  
  Pages: 782-8
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development2008
- Author(s)
  才津浩智
- Journal Title
  
  Congenit Anom(Kyoto) 48(1)
  
  Pages: 1-6
- NAID
  10027386860
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18790141
[Journal Article] Alu-related 5q35 microdeletions in Sotos syndrome.2008
- Author(s)
  Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N
- Journal Title
  
  Clin Genet 74(4)
  
  Pages: 384-91
- Data Source
  KAKENHI-PROJECT-20790267
[Journal Article] Abberant Differentiation of the Axially Condensed Tail Bud Mesenchyme in Human Embryos with Lumbosacral Myeloschisis2007
- Author(s)
  Saitsu H, Yamada S, Uwabe C, Ishibashi M, Shiota K
- Journal Title
  
  The Anatomical Record 290
  
  Pages: 251-258
- Data Source
  KAKENHI-PROJECT-18590168
[Journal Article] Aberrant differentiation of the axially-condensed tail bud mesencyme in human embryos with lumbosacral myeloschisis2007
- Author(s)
  Saitsu, et. al.
- Journal Title
  
  Anatomical Record 290
  
  Pages: 251-258
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590168
[Journal Article] Aberrant differentiation of the axially-condensed tail bud mesenchyme in human embryos with lumbosacral myeloschisis2007
- Author(s)
  Saitsu, et al.
- Journal Title
  
  Anatomical Record 290
  
  Pages: 251-258
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18590168
[Journal Article] Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period2007
- Author(s)
  Higashiyama D, Saitsu H, Komada M, Takigawa T, Ishibashi M, Shiota K
- Journal Title
  
  Birth Defects Res A Clin Mol Teratol. (in print)
- Data Source
  KAKENHI-PROJECT-18590168
[Journal Article] Aberrant differentiation of the axially condensed tail bud mesenchyme in human embryos with lumbosacral myeloschisis.2007
- Author(s)
  才津浩智
- Journal Title
  
  The Anatomical Record 290 (3)
  
  Pages: 251-258
- Data Source
  KAKENHI-PROJECT-18790141
[Journal Article] Ahalysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow development2006
- Author(s)
  Saitsu H, Shiota K, Ishibashi M
- Journal Title
  
  Mechanisms of Development 123(9)
  
  Pages: 665-673
- Data Source
  KAKENHI-PROJECT-18590168
[Journal Article] Analysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow tract development.2006
- Author(s)
  才津浩智
- Journal Title
  
  Mechanisms of development 123 (9)
  
  Pages: 665-673
- Data Source
  KAKENHI-PROJECT-18790141
[Patent] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法2016
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Rights Type
  特許
- Filing Date
  2016
- Acquisition Date
  2018
- Data Source
  KAKENHI-PROJECT-16H05160
[Patent] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法2013
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Rights Type
  特許
- Industrial Property Number
  2013-123660
- Filing Date
  2013-06-12
- Data Source
  KAKENHI-PROJECT-25293085
[Patent] 孔脳症又は脳出血のリスクを予測する方法2011
- Inventor(s)
  松本直通, 才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-247457
- Filing Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-22689011
[Patent] 孔脳症又は脳出血のリスクを予測する方法2011
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-247457
- Filing Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-22689011
[Patent] び慢性大脳白質形成不全症患者又は保因者の検出方法2011
- Inventor(s)
  松本直通, 才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-022648
- Filing Date
  2011-10-14
- Data Source
  KAKENHI-PROJECT-22689011
[Patent] び慢性大脳白質形成不全症患者又は保因者の検出方法2010
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  横浜市立大学
- Industrial Property Number
  2011-226488
- Filing Date
  2010-10-14
- Data Source
  KAKENHI-PROJECT-22689011
[Patent] 大脳白質異常を伴う点頭てんかんの検出方法2009
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Number
  2009-146055
- Filing Date
  2009-06-19
- Data Source
  KAKENHI-PROJECT-20790267
[Patent] 新生児期〜乳児期発症の難治性てんかんの検出方法2007
- Inventor(s)
  松本直通、才津浩智
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Number
  2007-340147
- Filing Date
  2007-12-28
- Data Source
  KAKENHI-PROJECT-20790267
[Patent] 新生児期～乳児期発症の難治性てんかんの検出方法2007
- Inventor(s)
  松本直通, 才津浩智
- Industrial Property Rights Holder
  公立大学法人横浜市立大学
- Industrial Property Number
  2007-340147
- Filing Date
  2007-12-28
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] レーバー先天盲および早期発症網膜ジストロフィに対する全ゲノム解析2023
- Author(s)
  鳥居薫子、仁科幸子、森川葉月、横井匡、立花信貴、溝渕圭、宮本祥子、近藤寛之、林孝彰、東範行、才津浩智、堀田喜裕
- Organizer
  第127回日本眼科学会総会
- Data Source
  KAKENHI-PROJECT-23K09041
[Presentation] 遺伝子解析による大脳白質形成不全症発症メカニズムの解明2023
- Author(s)
  才津浩智
- Organizer
  第64回日本神経学会学術集会
- Data Source
  KAKENHI-PROJECT-23K27566
[Presentation] ジェネティックエキスパート認定制度の役割と展望2023
- Author(s)
  才津浩智
- Organizer
  第30回日本遺伝診療学会大会
- Data Source
  KAKENHI-PROJECT-23K27566
[Presentation] Clinical phenotype of japanese infants with CEP290-associated leber congenital amaurosis2023
- Author(s)
  Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Masakazu Takayama, Katsuhiro Hosono, Tomoka Kanbe, Hirotomo Saitsu, Maki Fukami, Yuichi Hori, Yoshihiro Hotta
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K09041
[Presentation] RPGRIP1遺伝子変異によるレーバー先天盲の臨床像2023
- Author(s)
  森川葉月、仁科幸子、林孝彰、鳥居薫子、細野克博、佐藤美保、横井匡、深見真紀、才津浩智、東範行、堀田喜裕
- Organizer
  第127回日本眼科学会総会
- Data Source
  KAKENHI-PROJECT-23K09041
[Presentation] 網羅的遺伝子解析とマウスモデル解析による遺伝性疾患の病態解明2023
- Author(s)
  才津浩智
- Organizer
  第63回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-23K27566
[Presentation] 網羅的遺伝子解析による希少疾患の遺伝子診断2023
- Author(s)
  才津浩智
- Organizer
  Next generation central meeting
- Invited
- Data Source
  KAKENHI-PROJECT-23K27566
[Presentation] 網羅的遺伝子解析による病的意義不明例の検出と病態・機能解析2022
- Author(s)
  才津浩智
- Organizer
  第64回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] 希少疾患の診断の進歩: WES再解析/WGS/RNA-seq解析の現状と有用性2022
- Author(s)
  才津浩智
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] 全ゲノムおよびトランスクリプトーム解析による疾患原因の同定2022
- Author(s)
  才津浩智
- Organizer
  第62回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] ATP6V0A1 encoding the α1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice2021
- Author(s)
  Hirotomo Saitsu et al.
- Organizer
  日本人類遺伝学会第66回大会第28回日本遺伝子診療学会大会合同開
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] 発達性てんかん性脳症を引き起こすKv2.1 R306C 変異の大脳皮質錐体神経発火活動への影響について.2021
- Author(s)
  秋田天平，青戸一司，才津浩智，福田敦夫.
- Organizer
  第68回中部日本生理学会
- Data Source
  KAKENHI-PROJECT-21H02661
[Presentation] シンポジウム「ゲノム異常と先天異常」2020
- Author(s)
  才津浩智
- Organizer
  第29回日本形成外科学会基礎学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] 教育講演「小児神経疾患の遺伝学的原因検索から病態解明へ」2020
- Author(s)
  才津浩智
- Organizer
  第62回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03641
[Presentation] 発達期脳神経疾患の分子病態の解明2018
- Author(s)
  才津　浩智
- Organizer
  第24回日本小児神経学会東北地方会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 網羅的遺伝子解析による遺伝性疾患の診断2018
- Author(s)
  才津　浩智
- Organizer
  第58回日本臨床化学会年次学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 発達期脳神経疾患の遺伝要因と分子病態の解明2018
- Author(s)
  才津　浩智
- Organizer
  第110回東海臨床遺伝・代謝懇話会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] Next-Generation Sequencing (NGS) uncovers molecules essential for human physiology.2017
- Author(s)
  Hirotomo Saitsu
- Organizer
  第94回生理学会大会
- Place of Presentation
  アクトシティ（浜松）
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 遺伝カウンセラーが知っておくべき、網羅的遺伝子解析の実際と注意点2017
- Author(s)
  才津　浩智
- Organizer
  2017年度第一回認定遺伝カウンセラーセミナー
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] From identification of pathological variants to understanding mechanisms of epileptic syndromes: novel genes and potential mechanisms2017
- Author(s)
  才津　浩智
- Organizer
  The 21th Annual & Scientific Meeting of Taiwan Child Neurology Society.
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] Identification of STXBP1 mutations in patients with Ohtahara syndrome2017
- Author(s)
  才津　浩智
- Organizer
  14th Asian and Oceanian Congress of Child Neurology.
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 先天異常疾患と体細胞モザイク変異2017
- Author(s)
  才津　浩智
- Organizer
  第57回日本先天異常学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] Genetic Diagnosis of Epileptic Syndrome Using Next Generation Sequencing2017
- Author(s)
  才津　浩智
- Organizer
  The 21th Annual & Scientific Meeting of Taiwan Child Neurology Society.
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 次世代シークエンスによる分子病態の解明2016
- Author(s)
  才津浩智
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田キャンパス（東京）
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] Latest Applications of Automation Systems on the Next Generation Sequencing (NGS)2016
- Author(s)
  Hirotomo Saitsu
- Organizer
  10th International Conference of Clinical Laboratory Automation
- Place of Presentation
  GLAD Hotel Yeouido（Seoul）
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 原因不明の小児神経疾患の遺伝子診断2016
- Author(s)
  才津浩智
- Organizer
  第46回小児神経学セミナー
- Place of Presentation
  湘南国際村センター (神奈川)
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] 脳外科疾患における体細胞モザイク変異2016
- Author(s)
  才津浩智
- Organizer
  第5回　トランスレーショナルてんかん研究会
- Place of Presentation
  新潟グランドホテル（新潟）
- Invited
- Data Source
  KAKENHI-PROJECT-16H05160
[Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Hirotomo Saitsu et al.
- Organizer
  American Epilepsy Society
- Place of Presentation
  Philadelphia
- Year and Date
  2015-12-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 乳幼児てんかん性脳症の遺伝要因の解明2015
- Author(s)
  才津　浩智
- Organizer
  第67回大阪小児てんかん研究会
- Place of Presentation
  ホテルグランヴィア大阪、大阪
- Year and Date
  2015-03-14
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015
- Author(s)
  Hirotomo Saitsu et al.
- Organizer
  International Workshop on Advanced Genomics
- Place of Presentation
  学術総合センター一橋講堂（東京都）
- Year and Date
  2015-05-20
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] GNAO1変異が引き起こす表現型の広がり：てんかん性脳症から不随意運動を伴う発達遅滞まで2015
- Author(s)
  才津浩智等
- Organizer
  日本人類遺伝学会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015
- Author(s)
  Hirotomo Saitsu et al.
- Organizer
  American Society of Human Genetics
- Place of Presentation
  Baltimore
- Year and Date
  2015-10-09
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 次世代シークエンスが切り開く疾患の原因解明2015
- Author(s)
  才津浩智
- Organizer
  日本人類遺伝学会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-16
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 次世代シークエンサーを用いた包括的遺伝子診断2014
- Author(s)
  才津　浩智
- Organizer
  2014アジレントゲノミックスフォーラム
- Place of Presentation
  国際ファッションセンター、東京
- Year and Date
  2014-06-04
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] エクソーム解析による包括的遺伝子診断2014
- Author(s)
  才津　浩智
- Organizer
  日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会
- Place of Presentation
  タワーホール船堀、東京
- Year and Date
  2014-11-20
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] WDR45変異によるオートファジー障害が脳内に鉄沈着を伴う神経変性症を引き起こす2014
- Author(s)
  才津　浩智
- Organizer
  第55回日本神経学会学術大会
- Place of Presentation
  福岡国際会議場、福岡
- Year and Date
  2014-05-21
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 次世代シークエンサーによるてんかんを伴う知的障害の網羅的遺伝子解析2014
- Author(s)
  才津　浩智
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋国際会議場、名古屋
- Year and Date
  2014-04-11
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome: Involvement of chromosomal aberrations in patients with early epileptic encephalopathy.2013
- Author(s)
  Nakamura K, Saitsu H, Kato M, Osaka H, Yamashita S, Nakagawa E, et al.
- Organizer
  30th International Epilepsy Congress
- Place of Presentation
  Palais des congres de Montreal, Montreal, Canada
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria.2013
- Author(s)
  Murakami Y, Kato M, Saitsu H, Kikuchi K, Watanabe S, Iai M, Matsuura R, Takayama R, Ohba C, Hamano S, Osaka H, Hayasaka K, Matsumoto N, Kinoshita T
- Organizer
  55th American Society of Hematology Annual Meeting and Exposition
- Place of Presentation
  Ernest N. Morial Convention Center, New Orleans, USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] 早期発症てんかん性脳症の遺伝学的解明～次世代シークエンサーの活用～2013
- Author(s)
  才津　浩智
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  iichiko総合文化センター、大分
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 次世代シークエンサーを用いた遺伝子診断2013
- Author(s)
  才津　浩智
- Organizer
  NGS現場の会第3回研究会
- Place of Presentation
  神戸国際会議場、神戸
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] 加速する発達期脳神経疾患の原因解明2013
- Author(s)
  才津　浩智
- Organizer
  第58回日本人類遺伝学会
- Place of Presentation
  江陽グランドホテル、仙台
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] Early-onset epileptic encephalopathies caused by PIGA gene mutation.2013
- Author(s)
  Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Matsuura R, Takayama R, Hamano S, Kinoshita T, Hayasaka K, Matsumoto N
- Organizer
  American Epilepsy Society Annual Meeting 2013
- Place of Presentation
  Walter E. Washington Convention Center, Washington, D.C., USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] Phenotypic spectrum of SPTAN1 encephalopathy.2013
- Author(s)
  Tohyama J, Akasaka N, Writzl K, Nonoda Y, Hamdan FF, Michaud JL, Osaka H, Shimono M, Kato M, Matsumoto N, Saitsu H.
- Organizer
  30th International Epilepsy Congress
- Place of Presentation
  Palais des congres de Montreal, Montreal, Canada
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] 遺伝子検査と新規遺伝子同定におけるイルミナシークエンサーの運用2013
- Author(s)
  才津　浩智
- Organizer
  イルミナ　次世代シーケンサーユーザーフォーラム
- Place of Presentation
  東京ヒューリックホール、東京
- Invited
- Data Source
  KAKENHI-PROJECT-25293085
[Presentation] Ohtahara syndrome and other neonatal-onset epileptic encephalopathies caused by missense mutations of the KCNQ2 gene.2012
- Author(s)
  Kato M, Saitsu H, Yamagata T, Arai H, Fujii T, Hirata Y, Kusama Y, Yamashita S, Nakagawa T, Koide A, Goto T, Kubota M, Fujita T, Ihara Y, Sugai K, Saito K, Hayasaka K, Matsumoto N
- Organizer
  American Epilepsy Society 2012 Annual meeting
- Place of Presentation
  San Diego Convention Center, San Diego, USA
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] CASK のnull変異は小脳低形成を伴う大田原症候群をひきおこす2012
- Author(s)
  才津　浩智
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル（東京都）
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] De novo and inherited mutations in COL4A2, encoding type IV collagen α2 chain cause porencephaly2012
- Author(s)
  才津浩智
- Organizer
  第52回日本先天異常学会学術集会
- Place of Presentation
  東京女子医科大学弥生記念講堂(東京都)
- Year and Date
  2012-07-07
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an hypomyelinating leukoencephalopathy2012
- Author(s)
  才津浩智
- Organizer
  第117回日本解剖学会総会・全国学術集会
- Place of Presentation
  山梨大学(山梨県)
- Year and Date
  2012-06-26
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] CASK の null 変異は小脳低形成を伴う大田原症候群をひきおこす2012
- Author(s)
  才津浩智
- Organizer
  人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル(東京都)
- Year and Date
  2012-10-25
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia2012
- Author(s)
  Saitsu H
- Organizer
  62th Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  Moscone Center(San Francisco, USA)
- Year and Date
  2012-11-09
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] De novo and inherited mutations in COL4A2, encoding type IV collagen α2 chain cause porencephaly.2012
- Author(s)
  才津　浩智
- Organizer
  第52回日本先天異常学会学術集会
- Place of Presentation
  東京女子医科大学弥生記念講堂（東京都）
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia.2012
- Author(s)
  Hirotomo Saitsu
- Organizer
  62th Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  Moscone Center（San francisco, USA)
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] シンポジウム「染色体異常をめぐって-ダウン症の病態解明-」ダウン症候群の分子遺伝学的解析2011
- Author(s)
  才津浩智
- Organizer
  第51回日本先天異常学会学術集会
- Place of Presentation
  シェーンバッハ砂防(東京都)(招待講演)
- Year and Date
  2011-07-23
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] α-IIスペクトリンのドミナントネガティブ変異が髄鞘化障害を伴うWest症候群を引き起こす2011
- Author(s)
  才津浩智
- Organizer
  第51回日本先天異常学会学術集会
- Place of Presentation
  シェーンバッハ砂防(東京都)
- Year and Date
  2011-07-22
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 染色体異常をめぐって-ダウン症の病態解明-2011
- Author(s)
  才津浩智
- Organizer
  ダウン症候群の分子遺伝学的解析
- Place of Presentation
  シェーンバッハ砂防(東京都)
- Year and Date
  2011-07-23
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] α-II スペクトリンのドミナントネガティブ変異が髄鞘化障害を伴う West症候群を引き起こす2011
- Author(s)
  才津浩智
- Organizer
  第51回日本先天異常学会学術集会
- Place of Presentation
  シェーンバッハ砂防(東京都)
- Year and Date
  2011-07-22
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 新規CNV探索によるてんかん原因遺伝子の同定2010
- Author(s)
  才津浩智
- Organizer
  第18回精神行動遺伝医学会
- Place of Presentation
  東北大学(宮城)(招待講演)
- Year and Date
  2010-09-18
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 年齢依存性てんかん性脳症の分子遺伝学的研究2010
- Author(s)
  才津浩智
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  大宮ソニックシティ(埼玉)(招待講演)
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 年齢依存性てんかん性脳症の分子遺伝学的研究2010
- Author(s)
  才津浩智
- Organizer
  第55回日本人類遺伝学会(招待講演)
- Place of Presentation
  大宮ソニックシティ(埼玉県)
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 先天異常疾患のゲノム遺伝子解析2010
- Author(s)
  才津浩智
- Organizer
  第37回日本マス・スクリーニング学会
- Place of Presentation
  ワークピア横浜(神奈川)(招待講演)
- Year and Date
  2010-08-28
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 新規 CNV探索によるてんかん原因遺伝子の同定2010
- Author(s)
  才津浩智
- Organizer
  第18回精神行動遺伝医学会(招待講演)
- Place of Presentation
  東北大学(宮城県)
- Year and Date
  2010-09-18
- Data Source
  KAKENHI-PROJECT-22689011
[Presentation] 発生生物学からみたDysmorphology～形態形成と遺伝子発現調節～2009
- Author(s)
  才津浩智
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島, シンポジウム
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] Analysis of congenital anomalies by using microarray2009
- Author(s)
  才津浩智
- Organizer
  The 20^<th> Fukuoka International Synposium on Pediatric/Maternal-Child Health Research
- Place of Presentation
  福岡
- Year and Date
  2009-08-29
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] 裂足と聴覚障害を呈する患者に認められた7q21.3領域の染色体構造異常.2009
- Author(s)
  才津浩智
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  品川
- Year and Date
  2009-09-26
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.2009
- Author(s)
  Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
- Organizer
  59th Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  Hawaii, USA
- Year and Date
  2009-10-21
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] Analysis of congenital anomalies by using microarray2009
- Author(s)
  Saitsu H
- Organizer
  The 20th Fukuoka International Synposium on Pediatric/Maternal-Child Health Research
- Place of Presentation
  Fukuoka, Symposium
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.2009
- Author(s)
  Saitsu H
- Organizer
  59^<th> Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  ハワイアメリカ
- Year and Date
  2009-10-21
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] 発生生物学からみたDysmorphology～形態形成と遺伝子発現調節～2009
- Author(s)
  才津浩智
- Organizer
  第49回日本先天異常学会学術集会
- Place of Presentation
  鹿児島
- Year and Date
  2009-06-26
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008
- Author(s)
  才津浩智
- Organizer
  58^<th> Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  フィラデルフィアアメリカ
- Year and Date
  2008-11-12
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.2008
- Author(s)
  Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
- Organizer
  58th Annual Meeting of The American Society of Human Genetics
- Place of Presentation
  Philadelphia, USA
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] STXBP1(MUNC18-1)をコードする遺伝子のde novo変異によって大田原症候群が引き起こされる2008
- Author(s)
  才津浩智, 加藤光広, 水口剛, 濱田恵輔, 小坂仁, 遠山潤, 宇留野勝久, 熊田聡子, 西山精視, 西村章, 岡田一平, 吉村有紀子, 平井秀一, 熊田竜郎, 早坂清, 福田敦夫, 緒方一博, 松本直通
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] 転座を有する裂足患者のゲノム解析2008
- Author(s)
  才津浩智
- Organizer
  第48回日本先天異常学会学術集会
- Place of Presentation
  東京
- Year and Date
  2008-06-29
- Data Source
  KAKENHI-PROJECT-20790267
[Presentation] 二分脊椎の発生に関する胎生病理学的研究:ヒト胚における後部神経管発生過程とその異常(奨励賞受賞講演)2007
- Author(s)
  才津浩智
- Organizer
  第47回日本先天異常学会学術集会
- Place of Presentation
  名古屋
- Year and Date
  2007-07-08
- Data Source
  KAKENHI-PROJECT-18790141
[Presentation] Analysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow tract development2007
- Author(s)
  才津浩智
- Organizer
  57th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  サンディエゴアメリカ
- Year and Date
  2007-10-25
- Data Source
  KAKENHI-PROJECT-18790141
[Presentation] SCN8Aのde novo変異が原因となる乳児期早期発症の難治性てんかんについての検討．
- Author(s)
  大場ちひろ、加藤光広、高橋悟、寺嶋宙、久保田雅也、川脇壽、松藤まゆみ、小島泰子、舘野昭彦、中島光子、西山精視、鶴崎美徳、三宅紀子、田中章景、才津浩智、松本直通
- Organizer
  日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会合同大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24591500
[Presentation] 先天異常疾患のゲノム遺伝子解析
- Author(s)
  才津浩智
- Organizer
  第37回日本マス・スクリーニング学会(招待講演)
- Place of Presentation
  ワークピア横浜(神奈川)
- Data Source
  KAKENHI-PROJECT-22689011

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Saitsu Hirotomo 才津 浩智

SAITSU Hirotomo 才津 浩智

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Elucidation of novel mechanisms of pediatric neurological diseases focusing on non-coding regions of the genomePrincipal Investigator

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Development of a high-throughput functional evaluation system focusing on the stability of missense variantsPrincipal Investigator

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Multiomics analysis of neurological diseases using neural progenitor cells directly derived from urinary cellsPrincipal Investigator

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Elucidation of genetic factors and molecular pathology of neurodevelopmental disorders by a multifaceted approachPrincipal Investigator

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Elucidation for genetic basis and molecular pathology of infantile epileptic encephalopathyPrincipal Investigator

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Comprehensive RNA analysis of disease causing genes by target RNA capturePrincipal Investigator

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Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysisPrincipal Investigator

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Saitsu Hirotomo 才津浩智

SAITSU Hirotomo 才津浩智

[Book] 増刊号　臨床医が知っておきたい先天異常　「次世代シークエンスによる遺伝子診断の進歩」2013

[Book] 実験医学増刊ゲノム医学・生命科学研究「次世代シークエンサーによるメンデル遺伝性疾患の責任遺伝子解明2013