Mutation in the .beta.2 nicotinic acetylcholine receptor...

Details Mutation in the .beta.2 nicotinic acetylcholine receptor... Mutation in the .beta.2 nicotinic acetylcholine receptor...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) A61P 25/08 (2006.01) C07K 14/705 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2408374

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).

L'invention concerne une mutation ponctuelle dans la sous-unité .beta.2 d'un récepteur nicotinique de l'acétylcholine produisant une transition V287M, associée à l'épilepsie autosomique dominante du lobe frontal nocturne.

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