MUTATION IN THE beta 2 NICOTINIC ACETYLCHOLINE RECEPTOR SUBUNIT ASSOCIATED WITH NOCTURNAL FRONTAL LOBE EPILEPSY
摘要
A point mutation in the beta 2 subunit of an nicotinic acetylcholine receptor producing a V287M transition is associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
申请公布号
WO0188125(A1)
申请公布日期
2001.11.22
申请号
WO2001AU00541
申请日期
2001.05.11
申请人
BIONOMICS LIMITED;PHILLIPS, HILARY, ANNE;MULLEY, JOHN, CHARLES;BERKOVIC, SAMUEL, FRANK
发明人
PHILLIPS, HILARY, ANNE;MULLEY, JOHN, CHARLES;BERKOVIC, SAMUEL, FRANK