Nakamura Kazuyuki 中村和幸

… Alternative Names

NAKAMURA Kazuyuki 中村和幸

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Researcher Number	20436215
Other IDs
Affiliation (Current)	2025: 山形大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2014 – 2023: 山形大学, 医学部, 助教 2013 – 2014: 山形大学, 医学部, 医員 2011: 鳥取大学, 医学部, 助教 2007 – 2011: 山形大学, 医学部, 医員
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 全エクソン解析 / てんかん性脳症 / てんかん / ゲノム / 脳・神経 / 脳形成異常症 / HECW2 / 急性脳症 / 知的障害 / 小児神経疾患 / 脳形成異常 / 小児神経学 / 遺伝子 … More Except Principal Investigator … More 大田原症候群 / 次世代シーケンサー / 遺伝子解析 / 遺伝子 / てんかん / 介在ニューロン / ウエスト症候群 / 深層学習 / エクソーム解析 / RNA-Seq / RT-PCR / ゲノム / 小児神経 / 人工知能 / SpliceAI / スプライス異常 / エクソーム / 診断法 / 生殖細胞 / 突然変異 / デジタルＰＣＲ / モザイク / 遺伝子変異 / de novo変異 / de novo / 遺伝相談 / デジタルPCR / モザイク変異 / 全エクソーム解析 / イオンチャネル / SCN8A / SCN2A / KCNQ2 / ARX / 分子シャペロン / ポリアラニン / ARX遺伝子 / ポリアラニン病 / ARX 遺伝子 / 年齢依存性てんかん性脳症 / 小児神経学 Less

Combining Artificial Intelligence and RNA-Seq to elucidate new etiologies of genetic neurological disorders in childhood.
- Principal Investigator
  
  Kato Mitsuhiro
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Showa University
Research of early diagnosis system for epileptic encephalopathy by whole exome sequencingPrincipal Investigator
- Principal Investigator
  
  Nakamura Kazuyuki
- Project Period (FY)
  2016 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Development of presumptive diagnostic methods for germ line mosaic variants using low frequency mosaic variants detection technologies
- Principal Investigator
  
  Kato Mitsuhiro
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Showa University
Whole Exome sequencing for genetic modifiers associated with phenotype of epileptic encephalopathyPrincipal Investigator
- Principal Investigator
  
  Nakamura Kazuyuki
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata 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
Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatment
- Principal Investigator
  
  KATO Mitsuhiro
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Pathological role of interneurons in pediatric brain disorders
- Principal Investigator
  
  KATOH Mitsuhiro
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University

All 2023 2020 2018 2017 2016 2015 2014 2013 2012 2008 2007

All Journal Article Presentation

[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] Clinical and genetic characteristics of patients with Doose syndrome2020
- Author(s)
  Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
- Journal Title
  
  Epilepsia Open
  
  Volume: 5 Issue: 3 Pages: 442-450
- DOI
  10.1002/epi4.12417
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
[Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020
- Author(s)
  Miyake Noriko et al., Matsumoto Naomichi
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106 Issue: 1 Pages: 13-25
- DOI
  10.1016/j.ajhg.2019.11.011
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-19H03774, KAKENHI-PROJECT-18H02378, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K22401
[Journal Article] 新たなDCX遺伝子ミスセンス変異を認めた滑脳症の男児例2017
- Author(s)
  渡邊あさみ，徳田桐子，楠目和代，福田光成，中村和幸，加藤光広，石井榮一
- Journal Title
  
  愛媛医学
  
  Volume: 36(3) Pages: 167-170
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K19626
[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] 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] 特集けいれん性疾患の最新の治療 Ⅲ.最近の進歩原因遺伝子の解明から新しい治療薬の開発へ．2015
- Author(s)
  中村和幸，加藤光広
- Journal Title
  
  小児科診療
  
  Volume: 2 Pages: 253-258
- Data Source
  KAKENHI-PROJECT-26860781
[Journal Article] Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM2015
- Author(s)
  Nakamura K, Inui T, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M
- Journal Title
  
  Pediatr Neurol
  
  Volume: 52 Issue: 5 Pages: e7-e8
- DOI
  10.1016/j.pediatrneurol.2015.01.019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26860781
[Journal Article] 年齢依存性てんかん性脳症2014
- Author(s)
  中村和幸，加藤光広
- Journal Title
  
  こどもケア
  
  Volume: 9 Pages: 7-11
- Data Source
  KAKENHI-PROJECT-26860781
[Journal Article] Paternal Germline Mosaicism of a SCN2A Mutation Results in Ohtahara Syndrome in Half Siblings.2014
- Author(s)
  Zerem A, Blumkin L, Goldberg-Stern H,Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T
- Journal Title
  
  Eur J Pediatr Neurol
  
  Volume: 18 Issue: 5 Pages: 567-571
- DOI
  10.1016/j.ejpn.2014.04.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26860781
[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] 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] 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] 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] Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.2012
- Author(s)
  Nakamura K, Kato M, Sasaki A, Shiihara T, Hayasaka K
- Journal Title
  
  Pediatr Int
  
  Volume: 54 Issue: 5 Pages: 709-711
- DOI
  10.1111/j.1442-200x.2012.03594.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591500
[Journal Article] Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification2012
- Author(s)
  Nakamura K, Hayasaka K, et al
- Journal Title
  
  J Child Neurol
  
  Volume: 27 Issue: 2 Pages: 218-221
- DOI
  10.1177/0883073811416239
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-24591500
[Presentation] Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome2023
- Author(s)
  S Miyamoto, K Nakamura, M Kato, M Nakashima, H Saitsu
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236
[Presentation] HECW2 mutation causes periodic attacks of paralysis, intellectual disability and hypotonia2018
- Author(s)
  Kazuyuki Nakamura, Takahiro Abiko, Takashi Kanbayashi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
- Organizer
  15th International Child Neurology Congress
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09975
[Presentation] Novel GPI deficiency caused by PIGG mutations shows intellectual disability, seizures and hypotonia2017
- Author(s)
  1)Nakamura K, Kato M, Makrythanasis P, Zaki M, Saitsu H, Santoni F, Miyatake S, Nakashima M, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
- Organizer
  15th Asian and Oceania Congress of Child Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K19626
[Presentation] First case report on West syndrome with a de novo KCNQ3 mutation2017
- Author(s)
  Nakamura K, Yokoyama J, Abe A, Saitsu H, Nakashima M, Matsumoto N, Kato M
- Organizer
  32nd International Epilepsy Congress
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K19626
[Presentation] Novel GPI deficiency caused by PIGG mutations shows intellectual disability, seizures and hypotonia2016
- Author(s)
  Kazuyuki Nakamura, Mitsuhiro Kato, Periklis Makrythanasis, Maha Zaki, Hirotomo Saitsu, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E Antonarakis, Yoshiko Murakami
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル新宿
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-16K19626
[Presentation] A case of rapid-progressive bilateral Rasmussen’s encephalitis2015
- Author(s)
  Nakamura K, Takahashi N, Onoda T, Kakita A, Takahashi Y, Honma N, Mitsui T, Kato M
- Organizer
  13th Asian and Oceania Congress of Child Neurology
- Place of Presentation
  Taipei, Taiwan
- Year and Date
  2015-05-13
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860781
[Presentation] Evidence that variants in PIGG cause intellectual disability with early onset seizures and hypotonia2015
- Author(s)
  Makrythanasis P, Kinoshita T, Zaki MS, Saitsu H, Santoni FA, Miyatake S, Nakashima N, Matsumoto N, Mahmoud I, Guipponi M, Kato M, Nakamura K, Hamamy H, Antonarakis SE, Murakami M
- Organizer
  American Society of Human Genetics Annual Meeting
- Place of Presentation
  Baltimore, USA
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860781
[Presentation] Expanding clinical spectrum of GRIN2A mutations to atypical Rett syndrome2015
- Author(s)
  Nakamura K, Kato M, Togawa M, Maegaki Y, Ito M, Kawasaki M, Shinozaki T, Nakashima M, Matsumoto M, Saitsu H
- Organizer
  31st International Epilepsy Congress
- Place of Presentation
  Istunbul, Turkey
- Year and Date
  2015-09-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860781
[Presentation] A Newly identified congenital disorder of glycosylation caused by de novo mutations in SLC35A2 encoding a UDP-galactose transporter is associated with early-onset epileptic encephalopathy2014
- Author(s)
  中村和幸、小寺啓文、加藤光広、小坂仁、前垣義弘、萩野谷和裕、岡本伸彦、井合瑞江、湯浅勲、和田芳直、才津浩智、松本直通
- Organizer
  第48回日本てんかん学会
- Place of Presentation
  京王プラザホテル、東京
- Year and Date
  2014-10-02
- Data Source
  KAKENHI-PROJECT-26860781
[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] Candidate genes (ARX, CDKL5, and SLC25A22) mutation screening for early-onset epileptic encephalopathy2008
- Author(s)
  Kato M, Nakamura K, Matsumoto N, Osaka H, Hayasaka K
- Organizer
  The 4th Congress of the Asian Society for Pediatric Research
- Place of Presentation
  Honolulu, Hawaii, USA
- Data Source
  KAKENHI-PROJECT-19591198
[Presentation] Early infantile epileptic encephalopathy with suppression-burst(Ohtahara syndrome)is caused by a longer polyalanine expansion mutation in the ARX gene2007
- Author(s)
  Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Kumada S, Kubota M, Nakamura K, Hayasaka K
- Organizer
  57th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego, USA
- Data Source
  KAKENHI-PROJECT-19591198

1. KATOH Mitsuhiro (10292434)

# of Collaborated Projects: 6 results

# of Collaborated Products: 10 results
2. MATSUMOTO Naomichi (80325638)

# of Collaborated Projects: 3 results

# of Collaborated Products: 6 results
3. KOJIMA Toshio (00311340)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
4. GOTO Kaoru (30234975)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. TAKAHASHI Nobuya (20536958)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. KIKUCHI Takahiro (00594300)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. SAITSU Hirotomo (40402838)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
8. 宮冬樹 (50415311)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
11. 和田芳直

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 早坂清

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Nakamura Kazuyuki 中村 和幸

NAKAMURA Kazuyuki 中村 和幸

Research Projects

Research Products

Co-Researchers

Combining Artificial Intelligence and RNA-Seq to elucidate new etiologies of genetic neurological disorders in childhood.

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Research of early diagnosis system for epileptic encephalopathy by whole exome sequencingPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Development of presumptive diagnostic methods for germ line mosaic variants using low frequency mosaic variants detection technologies

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Whole Exome sequencing for genetic modifiers associated with phenotype of epileptic encephalopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatment

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathological role of interneurons in pediatric brain disorders

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical and genetic characteristics of patients with Doose syndrome2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 新たなDCX遺伝子ミスセンス変異を認めた滑脳症の男児例2017

Author(s)

Journal Title

Data Source

[Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay2016

Author(s)

Journal Title

DOI

URL

Language

Data Source

[Journal Article] 特集 けいれん性疾患の最新の治療 Ⅲ.最近の進歩 原因遺伝子の解明から新しい治療薬の開発へ．2015

Author(s)

Nakamura Kazuyuki 中村和幸

NAKAMURA Kazuyuki 中村和幸

[Journal Article] 特集けいれん性疾患の最新の治療 Ⅲ.最近の進歩原因遺伝子の解明から新しい治療薬の開発へ．2015