کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2825062 1161903 2008 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The genetics of hyperekplexia: more than startle!
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
The genetics of hyperekplexia: more than startle!
چکیده انگلیسی

Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis of this disorder has revealed mutations in genes for several postsynaptic proteins involved in glycinergic neurotransmission, including the glycine receptor (GlyR) α1 and β subunits, gephyrin and collybistin. However, new research suggests that mutations in the gene encoding the presynaptic glycine transporter GlyT2 are a second major cause of human hyperekplexia, as well as congenital muscular dystonia type 2 (CMD2) in cattle. These findings raise the intriguing possibility that both presynaptic and postsynaptic causes of disease might also exist in related disorders, such as idiopathic generalised epilepsies, where mutations in inhibitory GABAA receptor subunit genes have already been identified.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 24, Issue 9, September 2008, Pages 439–447
نویسندگان
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