Associated Papers
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1.
McGraw CM et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.
Kalvakuntla S et al.
Frontiers in Neuroscience, 2023
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.
Caputo D et al.
Frontiers in Neuroscience, 2023
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Kassabian B et al.
Frontiers in Neuroscience, 2023
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Johannesen KM 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
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Mermer F et al.
Neurobiology of Disease, 2022
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
Kahen A et al.
Journal of Medical Genetics, 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
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models.
Nwosu G et al.
Brain Communications, 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
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
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K et al.
Brain Communications, 2020
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
Cai K et al.
Experimental Neurology, 2019
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Kurki MI et al.
Nature Communications, 2019
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM et al.
Epilepsia, 2018
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Mosaic mutations in early-onset genetic diseases.
Halvorsen M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016