Associated Papers
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Jay KL et al.
Hgg Advances, 2026
Pathogenic variants at the N-terminal arginine residue 44 disrupt human GABA transporter 1 function: insights from Drosophila epilepsy models.
Shah N et al.
Frontiers in Pharmacology, 2025
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.
Kalvakuntla S 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
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
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Mermer F et al.
Brain : a Journal of Neurology, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K et al.
Brain Communications, 2020
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.
Vaqué JP et al.
Plos One, 2015