Benign adult familial myoclonic epilepsy (BAFME) with night blindness.
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).
Manabe
Yasuhiro
Y
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
Narai
Hisashi
H
Warita
Hitoshi
H
Hayashi
Takeshi
T
Shiro
Yoshihiko
Y
Sakai
Kenichi
K
Kashihara
Kenichi
K
Shoji
Mikio
M
Abe
Koji
K
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
D015220:Calcium Channels