Benign adult familial myoclonic epilepsy (BAFME) with night blindness

Yasuhiro Manabe, Hisashi Narai, Hitoshi Warita, Takeshi Hayashi, Yoshihiko Shiro, Kenichi Sakai, Kenichi Kashihara, Mikio Shoji, Koji Abe

研究成果: Article査読

25 被引用数 (Scopus)

抄録

This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be due to a channelopathy. On the other hand, the mutation of a calcium-channel gene in Xp11.23 was recently reported in incomplete X-linked congenital stationary night blindness (CSNB). Although the gene locus of BAFME was recently assigned to 8q23.3-q24.1, the causative gene has yet to be identified. The present familial case suggests that BAFME may also be a disease of the calcium channel that is present in the retina and the central nervous system (CNS).

本文言語English
ページ(範囲)266-268
ページ数3
ジャーナルSeizure
11
4
DOI
出版ステータスPublished - 2002
外部発表はい

ASJC Scopus subject areas

  • 神経学
  • 臨床神経学

フィンガープリント

「Benign adult familial myoclonic epilepsy (BAFME) with night blindness」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル