Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

(2018) Kameryn M Butler et al.   BRAIN

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

(2018) Na He et al.   GENETICS IN MEDICINE

Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2 +/Q390X Dravet syndrome mice

(2017) Xuan Huang et al.   EPILEPSIA

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

(2017) Ciria C. Hernandez et al.   Scientific Reports

Epileptic encephalopathy de novoGABRBmutations impair γ-aminobutyric acid type A receptor function

(2016) Vaishali S. Janve et al.   ANNALS OF NEUROLOGY

De novo GABRG2mutations associated with epileptic encephalopathies

(2016) Dingding Shen et al.   BRAIN

Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2+/Q390X mice associated with epileptic encephalopathy

(2016) Geqing Xia et al.   EPILEPSY RESEARCH

Differential molecular and behavioural alterations in mouse models ofGABRG2haploinsufficiency versus dominant negative mutations associated with human epilepsy

(2016) Timothy A. Warner et al.   HUMAN MOLECULAR GENETICS

De novo synaptogenesis induced by GABA in the developing mouse cortex

(2016) Won Chan Oh et al.   SCIENCE

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

(2016) Ryan J. Delahanty et al.   Cell Reports

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

(2016) Nicole A. Hawkins et al.   PLoS Genetics

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

(2015) Cecilia Mancini et al.   BMC Medical Genetics

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration

(2015) Jing-Qiong Kang et al.   NATURE NEUROSCIENCE

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

(2014) Atsushi Ishii et al.   EPILEPSY RESEARCH

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

(2014) Akshitkumar M. Mistry et al.   NEUROBIOLOGY OF DISEASE

GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)

(2014) Emily Todd et al.   NEUROBIOLOGY OF DISEASE

Synaptic recruitment of gephyrin regulates surface GABAA receptor dynamics for the expression of inhibitory LTP

(2014) Enrica Maria Petrini et al.   Nature Communications

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype

(2013) Jing-Qiong Kang et al.   ANNALS OF NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Stabilization of GABAA Receptors at Endocytic Zones Is Mediated by an AP2 Binding Motif within the GABAA Receptor  3 Subunit

(2012) K. R. Smith et al.   JOURNAL OF NEUROSCIENCE

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Slow Degradation and Aggregation In Vitro of Mutant GABAA Receptor  2(Q351X) Subunits Associated with Epilepsy

(2010) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

Mutations in GABAAreceptor subunits associated with genetic epilepsies

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

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

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

(2009) R J Delahanty et al.   MOLECULAR PSYCHIATRY

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE

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

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

Histone H2AX-dependent GABAA receptor regulation of stem cell proliferation

(2008) Michael Andäng et al.   NATURE

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

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