Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene |
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Authors: | Jean-Charles Hoda Daniel Bertrand |
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Institution: | a Department of Neuroscience, Medical Faculty, Geneva, Switzerland b Institute of Human Genetics, University Hospital, Ludwig Maximilians University Munich, Goethestr. 29, 80336 Munich, Germany |
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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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Keywords: | ADNFLE autosomal dominant nocturnal frontal lobe epilepsy nAChR nicotinic acetylcholine receptor PCR polymerase chain reaction Ach acetylcholine |
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