Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2049333 | FEBS Letters | 2009 | 6 Pages |
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 (α2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that α2-I279N can be co-expressed with the major structural subunit CHRNB2. α2-I279N causes a marked gain-of-function effect and displays a distinct biopharmacological profile, including markedly reduced inhibition by carbamazepine and increased nicotine sensitivity.
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Authors
Jean-Charles Hoda, Mario Wanischeck, Daniel Bertrand, Ortrud K. Steinlein,