title: Benign adult familial myoclonic epilepsy (BAFME) with night blindness.
abstract: 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).
authors.affiliation: Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, 2-5-1 Shikata-cho, Okayama 700-8558, Japan. manabe@cc.okayama-u.ac.jp
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Manabe
authors.forename: Hisashi
authors.initials: H
authors.lastname: Narai
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Warita
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hayashi
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Shiro
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sakai
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kashihara
authors.forename: Mikio
authors.initials: M
authors.lastname: Shoji
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000378:metabolism; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D012720:Severity of Illness Index; D014960:X Chromosome
chemical_list: D015220:Calcium Channels