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Functional polymorphisms in the human β4 subunit of nicotinic acetylcholine receptors

✍ Scribed by Yong Liang; Ramiro Salas; Lisa Marubio; Dani Bercovich; Mariella De Biasi; Arthur L. Beaudet; John A. Dani

Publisher
Springer
Year
2004
Tongue
English
Weight
236 KB
Volume
6
Category
Article
ISSN
1364-6745

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Association of idiopathic generalized ep
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits
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## Abstract Idiopathic generalized epilepsy (IGE) refers to a common group of epilepsies, and genetic factors play an important role in the pathogenesis of these disorders. Mutations in __CHRNA4__ and __CHRNB2__ are associated with some cases of familial epilepsies classified as autosomal‐dominant

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Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit α4 with common idiopathic generalized epilepsies
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The ␣4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has recently been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE). CHRNA4 is located in the candidate region for benign