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Nakamura Kazuyuki  中村 和幸

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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
  • Research Projects

    (7 results)
  • Research Products

    (28 results)
  • Co-Researchers

    (12 People)
  •  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

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