Referenced in: none

Automatically associated channels: Kir2.3

Title: Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.

Authors: Fernando Díaz-Otero, Mar Quesada, José Morales-Corraliza, Carlos Martínez-Parra, Pilar Gómez-Garre, José M Serratosa

Journal, date & volume: Epilepsia, 2008 Mar , 49, 516-20

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17900292

Abstract
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-releasing hormone (CRH). A four-generation ADNFLE family with six affected members was identified. All affected members presented the clinical characteristics of ADNFLE. Interictal awake and sleep EEG recordings showed no epileptiform abnormalities. Ictal video-EEG recordings showed focal seizures with frontal lobe semiology. Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. To our knowledge, this is the third family reported presenting a mutation in CHRNB2. The clinical phenotype appears similar to that described with mutations in CHRNA4, suggesting that mutations in these two subunits lead to similar functional alterations of the nAChR.