Truncation of the GABA(A)-receptor gamma 2 subunit in a family with generalized epilepsy with febrile seizures plus

Harkin, LA, Bowser, DN, Dibbens, LM, Singh, R, Phillips, F, Wallace, RH, Richards, MC, Williams, DA, Mulley, JC, Berkovic, SF, Scheffer, IE and Petrou, S (2002) Truncation of the GABA(A)-receptor gamma 2 subunit in a family with generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 70 2: 530-536. doi:10.1086/338710


Author Harkin, LA
Bowser, DN
Dibbens, LM
Singh, R
Phillips, F
Wallace, RH
Richards, MC
Williams, DA
Mulley, JC
Berkovic, SF
Scheffer, IE
Petrou, S
Title Truncation of the GABA(A)-receptor gamma 2 subunit in a family with generalized epilepsy with febrile seizures plus
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2002-01-01
Sub-type Article (original research)
DOI 10.1086/338710
Open Access Status Not yet assessed
Volume 70
Issue 2
Start page 530
End page 536
Total pages 7
Place of publication Chicago
Publisher Univ Chicago Press
Language eng
Abstract Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 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 GABA(A)-receptor gamma2-subunit mutation was found. This mutation lies in the intracellular loop between the third and fourth transmembrane domains of the GABA(A)-receptor gamma2 subunit and introduces a premature stop codon at Q351 in the mature protein. GABA sensitivity in Xenopus laevis oocytes expressing the mutant gamma2(Q351X) subunit is completely abolished, and fluorescent-microscopy studies have shown that receptors containing GFP-labeled gamma2(Q351X) protein are retained in the lumen of the endoplasmic reticulum. This finding reinforces the involvement of GABA(A) receptors in epilepsy.
Keyword Genetics & Heredity
Identification
Receptors
Subtypes
Channel
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
Queensland Brain Institute Publications
 
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Created: Mon, 13 Aug 2007, 22:45:43 EST