GABRB3mutations: a new and emerging cause of early infantile epileptic encephalopathy

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Crystal structure of a human GABAA receptor

(2014) Paul S. Miller et al.   NATURE

De Novo Mutations in Moderate or Severe Intellectual Disability

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De novo mutations in epileptic encephalopathies

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Structure, Function, and Modulation of GABAAReceptors

(2012) Erwin Sigel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Pamela Lachance-Touchette et al.   EPILEPSIA

GABRB3, epilepsy, and neurodevelopment

(2010) Miyabi Tanaka et al.   EPILEPSIA

Mutations in GABAAreceptor subunits associated with genetic epilepsies

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

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

(2009) R J Delahanty et al.   MOLECULAR PSYCHIATRY

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

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