Article
Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response.
The Journal of physiology - 1 Jul 2003
Rodrigues-Pinguet Nivalda, Jia Li, Li Maureen, Figl Antonio, Klaassen Alwin, Truong Anthony, Lester Henry A, Cohen Bruce N
Abstract excerpt
Five nicotinic acetylcholine receptor (nAChR) mutations are currently linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The similarity of their clinical symptoms suggests that a common functional anomaly of the mutations underlies ADNFLE seizures. To identify this anomaly, we constructed rat orthologues (S252F, +L264, S256L, V262L, V262M) of the human ADNFLE mutations, expressed them in...
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