De novoGABRA1mutations in Ohtahara and West syndromes

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

A novel variant inGABRB2associated with intellectual disability and epilepsy

(2014) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

The Intronic GABRG2 Mutation, IVS6+2T->G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable Truncated  2 Subunit

(2012) M. Tian et al.   JOURNAL OF NEUROSCIENCE

A neurosteroid potentiation site can be moved among GABAAreceptor subunits

(2012) John R. Bracamontes et al.   JOURNAL OF PHYSIOLOGY-LONDON

Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

(2012) Mengnan Tian et al.   NEUROBIOLOGY OF DISEASE

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

Neurosteroids as endogenous regulators of seizure susceptibility and use in the treatment of epilepsy

(2010) Doodipala S. Reddy et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies

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

What causes epileptic encephalopathy in infancy?: The answer may lie in our genes

(2010) K. D. Holland et al.   NEUROLOGY

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