Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/51133
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Type: Journal article
Title: The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies
Author: Dibbens, L.
Harkin, L.
Richards, M.
Hodgson, B.
Clarke, A.
Petrou, S.
Scheffer, I.
Berkovic, S.
Mulley, J.
Citation: Neuroscience Letters, 2009; 453(3):162-165
Publisher: Elsevier Sci Ireland Ltd
Issue Date: 2009
ISSN: 0304-3940
1872-7972
Statement of
Responsibility: 
L.M. Dibbens, L.A. Harkin, b, M. Richards, B.L. Hodgson, A.L. Clarke, S. Petrou, I.E. Scheffer, S.F. Berkovic and J.C. Mulley
Abstract: Rare GABAA receptor γ2 and α1 subunit mutations of pathogenic effect have been described segregating in families with “monogenic” epilepsies. We now report globally on the genetic variation contained within all 16 neuronal GABAA receptor subunit genes from the one patient cohort. The cohort consists of GEFS+, FS, and IGE subgroups as either sporadic cases or index cases from small families, with one index case from one large IGE family. The rarity of mutations and coding variation in general across all of the subunits suggests a low tolerance for mutations affecting GABA mediated neuronal inhibition. Characterization of the broader channelopathy load associated with susceptibility to these common epilepsies mostly with complex genetics will need to be expanded beyond the family of GABAA receptor subunits to all families of neuronal ion channels and their interacting molecules by systematic mutation detection associated with functional investigation of their naturally occurring genetic variations
Keywords: Keywords: Febrile seizures
GABAA receptors
Genetic epilepsy with febrile seizures plus
Genetics
Idiopathic generalized epilepsy
Description: Copyright © 2009 Published by Elsevier Ireland Ltd.
DOI: 10.1016/j.neulet.2009.02.038
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/506081/description#description
Appears in Collections:Aurora harvest
Paediatrics publications

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