Associated Papers
Rescue of Epilepsy-Associated Mutations of the Highly Conserved Glycine Residue 443 in the Human GABA Transporter 1.
Shah N et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A et al.
Brain : a Journal of Neurology, 2023
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Piniella D et al.
International Journal of Molecular Sciences, 2023
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.
Caputo D et al.
Frontiers in Neuroscience, 2023
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Trivisano M et al.
Frontiers in Neuroscience, 2023
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Bain JM et al.
Journal of Neurodevelopmental Disorders, 2022
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.
Fischer FP et al.
Frontiers in Molecular Biosciences, 2022
Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants.
Kasture AS et al.
Frontiers in Neuroscience, 2022
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F et al.
Brain : a Journal of Neurology, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.
Wang J et al.
Molecular Brain, 2020
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K et al.
Brain Communications, 2020
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.
Mattison KA et al.
Epilepsia, 2018
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014