研究者業績

小坂 仁

オサカ ヒトシ  (Hitoshi Osaka)

基本情報

所属
自治医科大学 医学部小児科学講座 / 医学部小児科学講座 小児医学部門 教授

研究者番号
90426320
J-GLOBAL ID
201401039803985369
researchmap会員ID
B000238601

外部リンク

論文

 377

MISC

 143
  • 阿久津萌, 月田貴和子, 三谷忠宏, 末盛智彦, 望月響子, 山田香里, 新開真人, 青柳順, 村松一洋, 小坂仁, 田島敏広
    日本小児科学会雑誌 127(11) 2023年  
  • 木下善仁, 木下善仁, 杉浦歩, 小貫孝則, 海老原知博, 松橋徹郎, 志村優, 伏見拓矢, 市野紀子, 長滝谷芳恵, 西畑瞳, 新田和広, 八塚由紀子, 岡崎敦子, WU Yibo, WU Yibo, 小坂仁, 大竹明, 大竹明, 村山圭, 村山圭, 岡崎康司, 岡崎康司
    日本ミトコンドリア学会年会要旨集 21st 2023年  
  • 松本歩, 津田英利, 池田尚広, 宮内彰彦, 橋口万里奈, 門田行史, 轡田行信, 渡邊和寿, 村松一洋, 小坂仁, 岩本禎彦, 山形崇倫
    日本人類遺伝学会大会プログラム・抄録集 67th (CD-ROM) 2022年  
  • 田中大輔, 池田尚広, 橋口万里奈, 松本歩, 門田行史, 村松一洋, 小坂仁, 山形崇倫
    脳と発達 54(1) 2022年  
  • Hirokazu Yamagishi, Masahide Goto, Hitoshi Osaka, Mari Kuwajima, Kazuhiro Muramatsu, Takanori Yamagata
    Epileptic disorders : international epilepsy journal with videotape 22(2) 214-218 2020年4月16日  
    Ring chromosome 20 syndrome is an epileptic and neurodevelopmental encephalopathy that occurs in children, characterised by a triad of refractory frontal lobe seizures, recurrent non-convulsive status epilepticus and frontal lobe-dominant paroxysmal discharges. However, details of other clinical features associated with ring chromosome 20 syndrome remain unknown. Here, we report two patients with ring chromosome 20 syndrome who had praxis-induced reflex seizures. Case 1 was an 11-year-old girl who presented with seizures triggered by specific activities such as mental and written calculations, writing, decision-making, recall, sudden changes in routine or ambient temperature and bathing. During calculations, left frontal lobe-dominant, 3-Hz slow-wave bursts were observed on EEG. Lacosamide effectively suppressed her tonic seizures. Case 2 was a six-year-old boy who presented with seizures triggered by specific activities such as calculations, recall and bathing. During calculations, frontal lobe-dominant, 3-Hz spike and slow-wave bursts were observed on EEG. Although his epilepsy was refractory, gabapentin reduced the frequency of focal seizures. In both cases, the hyperexcitability in the frontal lobe may have spread to the motor cortex and precipitated praxis-induced seizures. Therefore, in addition to the known characteristic triad, praxis-induced reflex seizures may also be a feature of ring chromosome 20 syndrome.

共同研究・競争的資金等の研究課題

 8