Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

(2020) Elliott Rees et al.   NATURE NEUROSCIENCE

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

(2020) Jie Wang et al.   Molecular Brain

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

(2019) Yi-Wu Shi et al.   BRAIN

A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function

(2019) Kefu Cai et al.   EXPERIMENTAL NEUROLOGY

Defining the phenotypic spectrum of SLC6A1 mutations

(2018) Katrine M. Johannesen et al.   EPILEPSIA

Dravet syndrome and its mimics: Beyond SCN1A

(2017) Dora Steel et al.   EPILEPSIA

Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

(2017) Jing-Qiong Kang   EPILEPSY RESEARCH

Pharmacochaperoning in aDrosophilamodel system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism

(2017) H. M. Mazhar Asjad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex geneNPRL3

(2016) Georg-Christoph Korenke et al.   EPILEPSIA

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

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

(2016) Juexin Wang et al.   Scientific Reports

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

(2016) Jing-Qiong Kang et al.   JAMA Neurology

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

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

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

(2014) F. Picard et al.   NEUROLOGY

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

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

The rare DAT coding variant Val559 perturbs DA neuron function, changes behavior, and alters in vivo responses to psychostimulants

(2014) M. A. Mergy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GABAergic Signaling as Therapeutic Target for Autism Spectrum Disorders

(2014) Giada Cellot et al.   Frontiers in Pediatrics

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype

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

Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells

(2013) Asif M. Maroof et al.   Cell Stem Cell

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

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

GABA Transporter-1 Activity Modulates Hippocampal Theta Oscillation and Theta Burst Stimulation-Induced Long-Term Potentiation

(2009) N. Gong et al.   JOURNAL OF NEUROSCIENCE

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

Enhanced tonic GABAA inhibition in typical absence epilepsy

(2009) David W Cope et al.   NATURE MEDICINE

Histone H2AX-dependent GABAA receptor regulation of stem cell proliferation

(2008) Michael Andäng et al.   NATURE