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Cell Press, American Journal of Human Genetics, 1(68), p. 225-231, 2001

DOI: 10.1086/316946

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CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

Journal article published in 2001 by Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi ORCID, David Goudie, Sarah E. Heron ORCID, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley
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Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.