Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene

[摘要]：Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. Recently, a point mutation (alpha 2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha 2-I279N can be co-expressed with the major structural subunit CHRNB2. alpha 2-I279N causes a marked gain-of-function effect and displays a distinct biopharmacological profile, including markedly reduced inhibition by carbamazepine and increased nicotine sensitivity. (C) 2009 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.

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