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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

✍ Scribed by Steinlein, Ortrud K.; Mulley, John C.; Propping, Peter; Wallace, Robyn H.; Phillips, Hilary A.; Sutherland, Grant R.; Scheffer, Ingrid E.; Berkovic, Samuel F.

Book ID: 118676014
Publisher: Nature Publishing Group
Year: 1995
Tongue: English
Weight: 367 KB
Volume: 11
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1095-201

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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