Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus-Reference-Cited by-同舟云学术

Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Published:2002-02 Issue:2 Volume:70 Page:530-536
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Harkin Louise A.,Bowser David N.,Dibbens Leanne M.,Singh Rita,Phillips Fiona,Wallace Robyn H.,Richards Michaella C.,Williams David A.,Mulley John C.,Berkovic Samuel F.,Scheffer Ingrid E.,Petrou Steven

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference22 articles.

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3. First evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene;Baulac;Nat Genet,2001

4. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001

5. Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors;Connolly;J Biol Chem,1996

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