Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons
Authors
Keywords
-
Journal
BRAIN
Volume 144, Issue 8, Pages 2499-2512
Publisher
Oxford University Press (OUP)
Online
2021-05-22
DOI
10.1093/brain/awab207
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now