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昭和大学研究者情報・業績集

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研究者情報

加藤 光広
KATO Mitsuhiro
医学部小児科学小児内科学
旗の台校舎
教授(員外)
医学博士
小児神経学、遺伝学、脳形成異常、てんかん
神経細胞移動異常症を中心とする脳形成障害の画像解析と遺伝子解析 小児期発症てんかんの遺伝子解析と表現型解析 介在ニューロン病interneuronopathies
社会医学、予防医学、小児神経学、外来小児科学
日本小児科学会 日本小児神経学会 日本人類遺伝学会 日本てんかん学会 アメリカ人類遺伝学会 国際小児神経学会
No. ▽ 刊行年月 ▼ 業績項目 ▽ 著者 タイトル・書名 ▽ 雑誌名/学会・シンポジウム名 ▽ 巻 ▽ 号 ▽ 開始ページ ▽
1037243 2020-01 学術雑誌論文(学外) MIYAKE N
TAKAHASHI H
NAKAMURA K
ISIDOR B
HIRAKI Y
KOSHIMIZU E
SHIINA M
SASAKI K
SUZUKI H
ABE R
KIMURA Y
AKIYAMA T
TOMIZAWA SI
HIROSE T
HAMANAKA K
MIYATAKE S
MITSUHASHI S
MIZUGUCHI T
TAKATA A
OBO K
KATO Mitsuhiro
OGATA K
MATSUMOTO N
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet
106 1 13
1037253 2019-10 学術雑誌論文(学外) ISHIKAWA N
TATEISHI Y
TANI H
KOBAYASHI Y
ITAI T
MIYATAKE S
KATO Mitsuhiro
MATSUMOTO N
KOBAYASHI M
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation. Seizure
71 20
1037246 2019-09 学術雑誌論文(学外) OGUNI H
NISHIKAWA A
SATO Y
OTANI Y
ITO S
NAGATA S
KATO Mitsuhiro
HAMANAKA K
MIYATAKE S
MATSUMOTO N
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. Epilepsy Res
155 106149
1037249 2019-08 学術雑誌論文(学外) DEN K
KATO Mitsuhiro
YAMAGUCHI T
MIYATAKE S
TAKATA A
MIZOGUCHI T
MIYAKE N
MITSUHASHI S
MATSUMOTO N
A novel de novo frameshift variant in SETD1B causes epilepsy. J Hum Genet
64 8 821
1037245 2019-07 学術雑誌論文(学外) SHIOHAMA T
NAKASHIMA M
IKEHARA H
KATO Mitsuhiro
SAITSU H
Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination. Congenit Anom (Kyoto)
e
1037248 2019-07 学術雑誌論文(学外) Fujita A
Higashijima T
Shirozu H
Masuda H
Sonoda M
Tohyama J
KATO Mitsuhiro
Nakashima M
Tsurusaki Y
Mitsuhashi S
Mizuguchi T
Takata A
Miyatake S
Miyake N
Fukuda M
Kameyama S
Saitsu H
Matsumoto N
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology
93 3 e237
1037244 2019-06 学術雑誌論文(学外) TAKATA Atsushi[et al]
KATO Mitsuhiro
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun
10 1 2506
1037251 2019-06 学術雑誌論文(学外) VAN DER SLUIJS PJ[et al]
KATO Mitsuhiro
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med
21 6 1295
1037252 2019-02 学術雑誌論文(学外) YOSHITOMI S
TAKAHASHI Y
IMAI K
KOSHIMIZU E
MIYATAKE S
NAKASHIMA M
SAITSU H
MATSUMOTO N
KATO Mitsuhiro
FUJITA T
ISHII A
HIROSE S
INOUE Y
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS). Seizure
65 118
1037247 2019-02 学術雑誌論文(学外) KOJIMA K
NAKAJIMA T
TAGA N
MIYAUCHI A
KATO Mitsuhiro
MATSUMOTO A
IKEDA T
NAKAMURA K
KUBOTA T
MIZUKAMI H
ONO S
ONUKI Y
SATO T
OSAKA H
MURAMATSU SI
YAMAGATA T
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain
142 2 322
1028959 2018-07 学術雑誌論文(学外) MIYATAKE Satoko
KATO Mitsuhiro
SAWAISHI Yukio
SAITO Takashi
NAKASHIMA Mitsuko
MIZUGUCHI Takeshi
MITSUHASHI Satomi
TAKATA Atsushi
MIYAKE Noriko
SAITSU Hirotomo
MATSUMOTO Naomichi
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Ann Neurol
84 1 159
1028961 2018-06 学術雑誌論文(学外) FASSIO Anna
ESPOSITO Alessandro
KATO Mitsuhiro
SAITSU Hirotomo
MEI Davide
MARINI Carla
CONTI Valerio
NAKASHIMA Mitsuko
OKAMOTO Nobuhiko
OLMEZ Turker Akgun
ALBUZ Burcu
SEMERCI Gündüz C Nur
YANAGIHARA Keiko
BELMONTE Elisa
MARAGLIANO Luca
RAMSEY Keri
BALAK Chris
SINIARD Ashley
NARAYANAN Vinodh
C4RCD Research Group
OHBA Chihiro
SHIINA Masaaki
OGATA Kazuhiro
MATSUMOTO Naomichi
BENEFENATI Fabio
GUERRINI Renzo
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain
141 6 1703
1028956 2018-04 学術雑誌論文(学外) NAKASHIMA M
KATO Mitsuhiro
AOTO K
SHIINA M
BELAL H
MUKAIDA S
KUMADA S
SATO A
ZEREM A
LERMAN-SAGIE T
LEV D
LEONG HY
TSURUSAKI Y
MIZUGUCHI T
MIYATAKE S
MIYAKE N
OGATA K
SAITSU H
MATSUMOTO N
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. Ann Neurol
83 4 794
1028954 2018-04 学術雑誌論文(学外) SHIOHAMA T
OHASHI H
SHIMIZU K
FUJII K
OBA D
TAKATANI T
KATO Mitsuhiro
SHIMOJO N
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. Brain Dev
40 4 353
1028958 2018-04 学術雑誌論文(学外) MIZUGUCHI T
NAKASHIMA M
KATO Mitsuhiro
OKAMOTO N
KURAHASHI H
EKHILEVITCH N
SHIINA M
NISHIMURA G
SHIBATA T
MATSUO M
IKEDA T
OGATA K
TSUCHIDA N
MITSUHASHI S
MIYATAKE S
TAKATA A
MIYAKE N
HATA K
KANAME T
MATSUBARA Y
SAITSU H
MATSUMOTO N
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet
27 8 1421
1028955 2018-04 その他 SHIGEMIZU D
MIYA F
AKIYAMA S
OKUDA S
BOROEVICH KA
FUJIMOTO A
NAKAGAWA H
OZAKI K
NIIDA S
KANEMURA Y
OKAMOTO N
SAITOH S
KATO Mitsuhiro
YAMASAKI M
MATSUNAGA T
MUTAI H
KOSAKI K
TSUNODA T
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. Sci Rep
8 1 5608
1028952 2018-03 学術雑誌論文(学外) TSUCHIDA N
NAKASHIMA M
KATO Mitsuhiro
HEYMAN E
INUI T
HAGINOYA K
WATANABE S
CHIYONOBU T
MORIMOTO M
OHTA M
KUMAKURA A
Kubota M
KUMAGAI Y
HAMANO SI
LOURENCO CM
YAHAYA NA
CH'NG GS
NGU LH
FATTAL-VALEVSKI A
WEISZ Hubshman M
ORENSTEIN N
MAROM D
COHEN L
GOLDBERG-STERN H
UCHIYAMA Y
IMAGAWA E
MIZUGUCHI T
TAKATA A
MIYAKE N
NAKAJIMA H
SAITSU H
MIYATAKE S
MATSUMOTO N
Detection of copy number variations in epilepsy using exome data. Clin Genet
93 3 577
1028950 2018-02 学術雑誌論文(学外) YOSHIDA M
NAKASHIMA M
OKANISHI T
KANAI S
FUJIMOTO A
ITOMI K
MORIMOTO M
SAITSU H
KATO Mitsuhiro
MATSUMOTO N
CHIYONOBU T
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet
93 2 368
1037250 2018-02 学術雑誌論文(学外) YOSHIADA M
NAKASHIMA M
OKANISHI T
KANAI S
FUJIMOTO A
ITOMI K
MORIMOTO M
SAITSU H
KATO Mitsuhiro
MATSUMOTO N
CHIYONOBU T
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet
93 2 368
1028951 2018-02 学術雑誌論文(学外) TSUCHIDA N
NAKASHIMA M
MIYAUCHI A
YOSHITOMI S
KIMIZU T
GANESAN V
TEIK KW
CH'NG GS
KATO Mitsuhiro
MIZUGICHI T
TAKATA A
MIYATAKE S
MIYAKE N
OSAKA H
YAMAGATA T
NAKAJIMA H
SAITSU H
MATSUMOTO N
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clin Genet
93 2 266
1028957 2018-01 学術雑誌論文(学外) 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
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. Am J Hum Genet
102 1 321
1028962 2018-01 学術雑誌論文(学外) AKITA Tenpei
AOTO Kazushi
KATO Mitsuhiro
SHIINA Masaaki
MUTOH Hiroki
NAKASHIMA Mitsuko
KUKI Ichiro
OKAZAKI Shin
MAGARA Shinichi
SHIIHARA Takashi
KENJI Kenji
AIBA Kaori
TOHYAMA Jun
OHBA Chihiro
MIYATAKE Satoko
MIYAKE Noriko
OGATA Kazuhiro
FUKUDA Atsuo
MATSUMOTO Naomichi
SAITSU Hirotomo
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders Ann Clin Transl Neurol
5 3 280
1028960 2018-01 学術雑誌論文(学外) HIRAIDE T
NAKASHIMA M
YAMOTO K
FUKUDA T
KATO Mitsuhiro
IKEDA H
SUGIE Y
AOTO K
KANAME T
NAKABAYASHI K
OGATA T
MATSUMOTO N
SAITSU H
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet
137 1 95
1028953 2018-01 学術雑誌論文(学外) TAKATA A
MIYAKE N
TSURUSAKI Y
FUKAI R
MIYATAKE S
KOSHIMIZU E
KUSHIMA I
OKADA T
MORIKAWA M
UNO Y
ISHIZUKA K
NAKAMURA K
TSUJII M
YOSHIKAWA T
TOYOTA T
OKAMOTO N
HIRAKI Y
HASHIMOTO R
YASUDA Y
SAITOH S
OHASHI K
SAKAI Y
OHGA S
HARA T
KATO Mitsuhiro
NAKAMURA K
ITO A
SEIWA C
SHIRAHATA E
OSAKA H
MATSUMOTO A
TAKESHITA S
TOHYAMA J
SAIKUSA T
MATSUISHI T
NAKAMURA T
TSUBOI T
KATO T
SUZUKI T
SAITSU H
NAKASHIMA M
MIZUGUCHI T
TANAKA F
MORI N
OZAKI N
MATSUMOTO N
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep
22 3 734
1026279 2017-04 学術雑誌論文(学外) TAKAGI Masaki
DOBASHI Kazushige
NAGAHARA Keiko
KATO Mitsuhiro
NISHIMURA Gen
FUKUZAWA Ryuji
NARUMI Satoshi
HASEGAWA Tomonobu
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A
173 4 1071

第13回小児医学川野賞(2013)、山形大学医学会学術賞特別賞(金賞)(2013)、第3回鳥取大学小児神経科学賞(竹下研三賞)(2011)、第1回日本小児科学会学術研究賞(2011)、JSCN Award for Excellence (日本小児神経学会), PAS/ASPR合同学会, Denver(2011)、Tadokoro award (第8回アジア・オセアニアてんかん学会 メルボルン)(2010)、日本てんかん学会JUHN & MARY WADA奨励賞(2009)、日本人類遺伝学会奨励賞(2008)、山形大学医学部 Excellent teacher Award(2005)、他
国際小児神経学会 理事(2018年11月〜) 小児神経症例検討会(蔵王セミナー) 事務局 日本小児神経学会 専門医・評議員・国際化推進委員会委員長・震災対策委員会委員・長期計画委員会委員 日本てんかん学会 てんかん専門医・評議員・薬事委員会委員 日本小児科学会 専門医・指導医 日本人類遺伝学会 臨床遺伝専門医・評議員 ‘Pediatric Neurology’ Editorial board member
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