Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy

(2010) Pamela Lachance-Touchette et al.   EPILEPSIA

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies

(2010) XiuYu Shi et al.   JOURNAL OF HUMAN GENETICS

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Axon initial segment dysfunction in epilepsy

(2010) Verena C. Wimmer et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neurological channelopathies: new insights into disease mechanisms and ion channel function

(2010) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mutations in GABAAreceptor subunits associated with genetic epilepsies

(2010) Robert L. Macdonald et al.   JOURNAL OF PHYSIOLOGY-LONDON

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Mutations affecting GABAergic signaling in seizures and epilepsy

(2010) Aristea S. Galanopoulou   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

(2009) Andreas Hahn et al.   BRAIN & DEVELOPMENT

Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

An Epilepsy-Related Region in the GABAA Receptor Mediates Long-Distance Effects on GABA and Benzodiazepine Binding Sites

(2009) M. P. Goldschen-Ohm et al.   MOLECULAR PHARMACOLOGY

Role of voltage-gated calcium channels in epilepsy

(2009) Gerald W. Zamponi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

(2008) Miyabi Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Developmental impact of a familial GABAAreceptor epilepsy mutation

(2008) Cindy Chiu et al.   ANNALS OF NEUROLOGY

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

(2008) Peter Kinirons et al.   EPILEPSY RESEARCH

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Assembly of GABAAreceptors (Review)

(2008) Isabella Sarto-Jackson et al.   MOLECULAR MEMBRANE BIOLOGY

GABAA receptors: Subtypes provide diversity of function and pharmacology

(2008) Richard W. Olsen et al.   NEUROPHARMACOLOGY

International Union of Pharmacology. LXX. Subtypes of  -Aminobutyric AcidA Receptors: Classification on the Basis of Subunit Composition, Pharmacology, and Function. Update

(2008) R. W. Olsen et al.   PHARMACOLOGICAL REVIEWS