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

Author:

Ishiura HiroyukiORCID,Doi Koichiro,Mitsui JunORCID,Yoshimura Jun,Matsukawa Miho Kawabe,Fujiyama Asao,Toyoshima Yasuko,Kakita Akiyoshi,Takahashi Hitoshi,Suzuki Yutaka,Sugano Sumio,Qu Wei,Ichikawa Kazuki,Yurino Hideaki,Higasa Koichiro,Shibata Shota,Mitsue Aki,Tanaka Masaki,Ichikawa Yaeko,Takahashi Yuji,Date Hidetoshi,Matsukawa Takashi,Kanda Junko,Nakamoto Fumiko Kusunoki,Higashihara Mana,Abe Koji,Koike Ryoko,Sasagawa Mutsuo,Kuroha Yasuko,Hasegawa Naoya,Kanesawa Norio,Kondo Takayuki,Hitomi Takefumi,Tada Masayoshi,Takano Hiroki,Saito Yutaka,Sanpei Kazuhiro,Onodera OsamuORCID,Nishizawa Masatoyo,Nakamura Masayuki,Yasuda Takeshi,Sakiyama YoshioORCID,Otsuka Mieko,Ueki Akira,Kaida Ken-ichi,Shimizu Jun,Hanajima Ritsuko,Hayashi Toshihiro,Terao Yasuo,Inomata-Terada Satomi,Hamada Masashi,Shirota Yuichiro,Kubota Akatsuki,Ugawa Yoshikazu,Koh Kishin,Takiyama Yoshihisa,Ohsawa-Yoshida Natsumi,Ishiura Shoichi,Yamasaki Ryo,Tamaoka Akira,Akiyama Hiroshi,Otsuki Taisuke,Sano Akira,Ikeda Akio,Goto Jun,Morishita Shinichi,Tsuji ShojiORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference45 articles.

1. Inazuki, G. et al. A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy–the nosological place of familial essential myoclonus and epilepsy (FEME). Psych. Neurol. Jpn. 92, 1–21 (1990).

2. Ikeda, A. et al. Cortical tremor: a variant of cortical reflex myoclonus. Neurology 40, 1561–1565 (1990).

3. Yasuda, T. Benign adult familial myoclonic epilepsy (BAFME). Kawasaki Med. J. 17, 1–13 (1991).

4. Plaster, N. M. et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 53, 1180–1183 (1999).

5. Mikami, M. et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am. J. Hum. Genet. 65, 745–751 (1999).

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