Nakamura Kazuyuki

ナカムラカズユキ | Nakamura Kazuyuki

Affiliation and department：
Job title： Assistant Professor

Research field (1)： Fetal medicine/Pediatrics

Research keywords (2)：てんかん , 小児神経疾患

Research theme for competitive and other funds (4)：

2018 - HECW2 mutation causes periodic attacks of paralysis, intellectual disability and hypotonia
2015 - 2016 てんかん性脳症と脳形成異常の遺伝要因と臨床病型の解明
2014 - 2016 全エクソン解析によるてんかん性脳症の表現型に関与する遺伝学的修飾因子の検討
2014 - てんかん性脳症の遺伝子解析

Papers (24)：

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, et al. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications. 2019. 10. 1. 2506-2506
Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Akihiko Miyauchi, Mitsuhiro Kato, Ayumi Matsumoto, Takahiro Ikeda, Kazuyuki Nakamura, Tetsuo Kubota, Hiroaki Mizukami, et al. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain : a journal of neurology. 2019. 142. 2. 322-333
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, et al. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell reports. 2018. 22. 3. 734-747
Daniela A. Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, et al. Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly. Nature Genetics. 2017. 49. 10. 1529-1538
Tomoyuki Akiyama, Yumiko Hayashi, Yoshiyuki Hanaoka, Takashi Shibata, Mari Akiyama, Kazuyuki Nakamura, Yu Tsuyusaki, Masaya Kubota, Harumi Yoshinaga, Katsuhiro Kobayashi. Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children. Clinica Chimica Acta. 2017. 465. 5-10

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MISC (5)：

Books (2)：

フェニチェル臨床小児神経学第7版
診断と治療社 2015 ISBN:9784787821751
小児科臨床ピクシス12 小児の頭痛診かた治しかた
中山書店 2009 ISBN:9784521731841

Lectures and oral presentations (22)：

縮瞳の後に散瞳をきたした急性ニコチン中毒の5歳男児
(日本小児科学会雑誌 2019)
重症児(医療的ケア児)に関わる人材養成・地域連携の取り組み
(日本小児科学会雑誌 2019)
山形県における医療的ケア児の在宅医療の現状と課題
(日本小児科学会雑誌 2019)
Muscular dystrophy-dystroglycanopathy type B3(MDDGB3)に新規POMGNT1変異を認めた1例
(脳と発達 2019)
空腹時髄液検査の際、糖制限による有害事象を起こした3例の検討
(脳と発達 2019)

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Professional career (1)：

博士(医学) (山形大学)

Work history (5)：

2017/01/01 - 現在 Yamagata University Faculty of Medicine School of Medicine Department of Pediatrics Assistant Professor
2014/10/01 - 2016/12/31 Yamagata University Faculty of Medicine School of Medicine Department of Pediatrics Others
2013/04/01 - 2014/09/30 Yamagata University Faculty of Medicine School of Medicine Department of Pediatrics Others
2012/07/01 - 2013/03/31 Yokohama City University Graduate School of Medicine, Graduate
2011/09/01 - 2012/06/30 Tottori University Faculty of Medicine

Committee career (2)：

2017/08/01 - 現在日本てんかん学会評議員
2015/06/01 - 現在日本小児神経学会評議員

Awards (6)：

2015/06 - 日本てんかん学会 2015年度日本てんかん学会Sponsored Award (UCB & Otsuka賞) Expanding clinical spectrum of GRIN2A mutations to atypical Rett syndrome
2014/12 - 山形大学医学部小児科同窓会平成26年度山形大学医学部小児科学教室同窓会研究奨励賞全エクソン解析による小児神経疾患の原因遺伝子同定
2014/10 - 日本てんかん学会第48回日本てんかん学会学術集会 English Presentation Award 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 encephalopathy
2014/05/29 - 日本小児神経学会第56回日本小児神経学会学術総会優秀口演賞 (English Session) De novo mutations in GNAO1 cause epileptic encephalopathy and involuntary movement. (English session)
2013/05 - 日本小児神経学会第55回日本小児神経学会学術総会最優秀演題賞 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

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