The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits

Item Type:	Article
Title:	The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits
Creators Name:	Bertrand, D. and Elmslie, F. and Hughes, E. and Trounce, J. and Sander, T. and Bertrand, S. and Steinlein, O.K.
Abstract:	Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy (ADNFLE). Previously, some nAChR mutations have been described that are associated with additional neurological features such as psychiatric disorders or cognitive defects. Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster. The CHRNB2 mutation I312M, which occurred de novo in twins, markedly increases the receptor's sensitivity to acetylcholine. Phenotypically, the mutation is associated not only with typical ADNFLE, but also with distinct deficits in memory. The cognitive problems are most obvious in tasks requiring the organization and storage of verbal information.
Keywords:	Acetylcholine receptor, Alzheimer disease, Cognitive function, Epilepsy, Schizophrenia
Source:	Neurobiology of Disease
ISSN:	0969-9961
Publisher:	Elsevier
Volume:	20
Number:	3
Page Range:	799-804
Date:	17 June 2005
Official Publication:	https://doi.org/10.1016/j.nbd.2005.05.013
PubMed:	View item in PubMed

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