Referenced in: none

Automatically associated channels: Kir2.3

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

Authors: Jean-Charles Hoda, Mario Wanischeck, Daniel Bertrand, Ortrud K Steinlein

Journal, date & volume: FEBS Lett., 2009 May 19 , 583, 1599-604

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19383498

Abstract
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 (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha2-I279N can be co-expressed with the major structural subunit CHRNB2. alpha2-I279N causes a marked gain-of-function effect and displays a distinct biopharmacological profile, including markedly reduced inhibition by carbamazepine and increased nicotine sensitivity.