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

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

(2019) Yi-Wu Shi et al.   BRAIN

Getting to the Cores of Autism

(2019) Lilia M. Iakoucheva et al.   CELL

Interplay between a Mental Disorder Risk Gene and Developmental Polarity Switch of GABA Action Leads to Excitation-Inhibition Imbalance

(2019) Eunchai Kang et al.   Cell Reports

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

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

(2017) Jing-Qiong Kang   EPILEPSY RESEARCH

SDM: a server for predicting effects of mutations on protein stability

(2017) Arun Prasad Pandurangan et al.   NUCLEIC ACIDS RESEARCH

The Interrater Reliability of the Autism Diagnostic Interview-Revised (ADI-R) in Clinical Settings

(2017) Eric Zander et al.   PSYCHOPATHOLOGY

INPS-MD: a web server to predict stability of protein variants from sequence and structure: Table 1.

(2016) Castrense Savojardo et al.   BIOINFORMATICS

MAESTROweb: a web server for structure-based protein stability prediction

(2016) Josef Laimer et al.   BIOINFORMATICS

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

Central Amygdala Somatostatin Neurons Gate Passive and Active Defensive Behaviors

(2016) Kai Yu et al.   JOURNAL OF NEUROSCIENCE

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

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

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

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

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

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

PASTA 2.0: an improved server for protein aggregation prediction

(2014) Ian Walsh et al.   NUCLEIC ACIDS RESEARCH

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

GABA Transporter-1 Deficiency Confers Schizophrenia-Like Behavioral Phenotypes

(2013) Zhe Yu et al.   PLoS One

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Neuron Number and Size in Prefrontal Cortex of Children With Autism

(2011) Eric Courchesne et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

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

Defining the role of GABA in cortical development

(2009) Doris D. Wang 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

Autism genetics: strategies, challenges, and opportunities

(2008) Brian J. O'Roak et al.   Autism Research

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

Histone H2AX-dependent GABAA receptor regulation of stem cell proliferation

(2008) Michael Andäng et al.   NATURE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

GABA Regulates Stem Cell Proliferation before Nervous System Formation

(2008)   Epilepsy Currents