Art

J-GLOBAL ID：201902282394038419   Reference number：19A1093760

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

てんかん:良性成人型家族性ミオクローヌスてんかんにおけるイントロン内のTTTCAおよびTTTTA反復配列伸長

Author (68)： ISHIURA Hiroyuki (Univ. Tokyo Hospital, Tokyo, JPN) ,  MITSUI Jun (Univ. Tokyo Hospital, Tokyo, JPN) ,  MATSUKAWA Miho Kawabe (Univ. Tokyo Hospital, Tokyo, JPN) ,  SHIBATA Shota (Univ. Tokyo Hospital, Tokyo, JPN) ,  MITSUE Aki (Univ. Tokyo Hospital, Tokyo, JPN) ,  TANAKA Masaki (Univ. Tokyo Hospital, Tokyo, JPN) ,  DATE Hidetoshi (Univ. Tokyo Hospital, Tokyo, JPN) ,  MATSUKAWA Takashi (Univ. Tokyo Hospital, Tokyo, JPN) ,  KANDA Junko (Univ. Tokyo Hospital, Tokyo, JPN) ,  NAKAMOTO Fumiko Kusunoki (Univ. Tokyo Hospital, Tokyo, JPN) ,  SHIMIZU Jun (Univ. Tokyo Hospital, Tokyo, JPN) ,  HAYASHI Toshihiro (Univ. Tokyo Hospital, Tokyo, JPN) ,  INOMATA-TERADA Satomi (Univ. Tokyo Hospital, Tokyo, JPN) ,  HAMADA Masashi (Univ. Tokyo Hospital, Tokyo, JPN) ,  SHIROTA Yuichiro (Univ. Tokyo Hospital, Tokyo, JPN) ,  KUBOTA Akatsuki (Univ. Tokyo Hospital, Tokyo, JPN) ,  TSUJI Shoji (Univ. Tokyo Hospital, Tokyo, JPN) ,  DOI Koichiro (Univ. Tokyo, Chiba, JPN) ,  YOSHIMURA Jun (Univ. Tokyo, Chiba, JPN) ,  QU Wei (Univ. Tokyo, Chiba, JPN) ,  ICHIKAWA Kazuki (Univ. Tokyo, Chiba, JPN) ,  MORISHITA Shinichi (Univ. Tokyo, Chiba, JPN) ,  FUJIYAMA Asao (National Inst. of Genetics, Shizuoka, JPN) ,  TOYOSHIMA Yasuko (Niigata Univ., Niigata, JPN) ,  KAKITA Akiyoshi (Niigata Univ., Niigata, JPN) ,  TAKAHASHI Hitoshi (Niigata Univ., Niigata, JPN) ,  SUZUKI Yutaka (Univ. Tokyo, Chiba, JPN) ,  SUGANO Sumio (Univ. Tokyo, Chiba, JPN) ,  YURINO Hideaki (Kanazawa Univ., Ishikawa, JPN) ,  HIGASA Koichiro (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  ICHIKAWA Yaeko (Kyorin Univ., Tokyo, JPN) ,  TAKAHASHI Yuji (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  HIGASHIHARA Mana (Tokyo Metropolitan Geriatric Hospital, Tokyo, JPN) ,  ABE Koji (Okayama Univ., Okayama, JPN) ,  KOIKE Ryoko (Nishi-Niigata Chuo National Hospital, Niigata, JPN) ,  KUROHA Yasuko (Nishi-Niigata Chuo National Hospital, Niigata, JPN) ,  SASAGAWA Mutsuo (Toyosato Hospital, Ibaraki, JPN) ,  HASEGAWA Naoya (Nishi-Niigata Chuo National Hospital, Niigata, JPN) ,  KANESAWA Norio (National Hospital Organization Takasaki General Medical Center, Gunma, JPN) ,  KONDO Takayuki (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  HITOMI Takefumi (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  TADA Masayoshi (Niigata Univ., Niigata, JPN) ,  ONODERA Osamu (Niigata Univ., Niigata, JPN) ,  TAKANO Hiroki (Tachikawa General Hospital, Niigata, JPN) ,  SAITO Yutaka (Sannocho Hospital, Niigata, JPN) ,  SANPEI Kazuhiro (Sado General Hospital, Niigata, JPN) ,  NISHIZAWA Masatoyo (Niigata Medical Center, Niigata, JPN) ,  NAKAMURA Masayuki (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SANO Akira (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  YASUDA Takeshi (Kurashikikinen Hospital, Okayama, JPN) ,  SAKIYAMA Yoshio (Jichi Medical Univ., Saitama, JPN) ,  OTSUKA Mieko (International Univ. Health and Welfare, Tochigi, JPN) ,  KAIDA Ken-ichi (National Defense Medical Coll., Saitama, JPN) ,  HANAJIMA Ritsuko (Kitasato Univ., Kanagawa, JPN) ,  TERAO Yasuo (Kyorin Univ., Tokyo, JPN) ,  UGAWA Yoshikazu (Fukushima Medical Univ., Fukushima, JPN) ,  KOH Kishin (Univ. Yamanashi, Yamanashi, JPN) ,  TAKIYAMA Yoshihisa (Univ. Yamanashi, Yamanashi, JPN) ,  OHSAWA-YOSHIDA Natsumi (Univ. Tokyo, Chiba, JPN) ,  ISHIURA Shoichi (Univ. Tokyo, Chiba, JPN) ,  ISHIURA Shoichi (Doshisha Univ., Kyoto, JPN) ,  YAMASAKI Ryo (Kyushu Univ., Fukuoka, JPN) ,  TAMAOKA Akira (Univ. Tsukuba, Ibaraki, JPN) ,  AKIYAMA Hiroshi (Hiratsuka Hospital, Kanagawa, JPN) ,  OTSUKI Taisuke (Epilepsy Hospital Bethel Japan, Miyagi, JPN) ,  IKEDA Akio (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  GOTO Jun (International Univ. Health and Welfare Mita Hospital, Tokyo, JPN) ,  TSUJI Shoji (International Univ. Health and Welfare, Chiba, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 50  Issue： 4  Page： 581-590  Publication year： Apr. 2018 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *repetitive sequence ,  dysfunction ,  pedigree ,  Ion Channels ,  *Epilepsy ,  tremor (disease) ,  gene ,  *adult (person) ,  *Myoclonus ,  nucleotide sequence ,  *intron ,  neuron ,  Untranslated Regions ,  genomic DNA ,  *Epilepsies, Myoclonic ,  Ion Transport ,  transportation ,  Biological Transport ,  transmembrane protein ,  ion transport(in vivo)

JST classification (1)： Structure and chemistry of genes  (EC02020U)

Terms in the title (4)： てんかん ,  良性成人型家族性ミオクローヌスてんかん ,  イントロン ,  反復配列