Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies|
|Citation:||Neuroscience Letters, 2009; 453(3):162-165|
|Publisher:||Elsevier Sci Ireland Ltd|
|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.|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.