Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/28197
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Type: Journal article
Title: Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Other Titles: Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
Author: Harkin, L.
Bowser, D.
Dibbens, L.
Singh, R.
Phillips, F.
Wallace, R.
Richards, M.
Williams, D.
Mulley, J.
Berkovic, S.
Scheffer, I.
Petrou, S.
Citation: American Journal of Human Genetics, 2002; 70(2):530-536
Publisher: Univ Chicago Press
Issue Date: 2002
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, Michaella C. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer and Steven Petrou
Abstract: Recent findings from studies of two families have shown that mutations in the GABAA-receptor γ2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS+), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABAA-receptor γ2-subunit mutation was found. This mutation lies in the intracellular loop between the third and fourth transmembrane domains of the GABAA-receptor γ2 subunit and introduces a premature stop codon at Q351 in the mature protein. GABA sensitivity in Xenopus laevis oocytes expressing the mutant γ2Q351X subunit is completely abolished, and fluorescent-microscopy studies have shown that receptors containing GFP-labeled γ2Q351X protein are retained in the lumen of the endoplasmic reticulum. This finding reinforces the involvement of GABAA receptors in epilepsy.
Keywords: Oocytes; Cell Line; Endoplasmic Reticulum; Animals; Xenopus laevis; Humans; Epilepsies, Myoclonic; Epilepsy, Generalized; Seizures, Febrile; gamma-Aminobutyric Acid; Receptors, GABA-A; Protein Subunits; Codon, Terminator; Pedigree; Electrophysiology; Sequence Deletion; Base Sequence; Protein Conformation; Models, Molecular; Female; Male
Rights: Copyright © 2002 The American Society of Human Genetics Published by Elsevier Inc.
RMID: 0020020994
DOI: 10.1086/338710
Appears in Collections:Molecular and Biomedical Science publications

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