A novel variant inGABRB2associated with intellectual disability and epilepsy

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

(2013) Michelle B Polan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAAreceptor subunits associated with genetic epilepsies

(2012) Robert L. Macdonald et al.   EPILEPSIA

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

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

(2011) Pamela Lachance-Touchette et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Principles of activation and permeation in an anion-selective Cys-loop receptor

(2011) Ryan E. Hibbs et al.   NATURE

 5GABAA Receptor Activity Sets the Threshold for Long-Term Potentiation and Constrains Hippocampus-Dependent Memory

(2010) L. J. Martin et al.   JOURNAL OF NEUROSCIENCE

Mutations in GABAAreceptor subunits associated with genetic epilepsies

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

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

(2009) L.M. Dibbens et al.   NEUROSCIENCE LETTERS

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

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

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus

(2008) Huihui Sun et al.   JOURNAL OF HUMAN GENETICS

GABAA receptor trafficking and its role in the dynamic modulation of neuronal inhibition

(2008) Tija C. Jacob et al.   NATURE REVIEWS NEUROSCIENCE

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

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