کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2049333 1074124 2009 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک دانش گیاه شناسی
پیش نمایش صفحه اول مقاله
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: FEBS Letters - Volume 583, Issue 10, 19 May 2009, Pages 1599–1604
نویسندگان
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