Associated Papers
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
38781976 (PubMed )
Supplement: mmc10.pdf
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Trivisano M et al.
Frontiers in Neuroscience, 2023
37700749 (PubMed )
Supplement: Table_1.XLSX › Data
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Bain JM et al.
Journal of Neurodevelopmental Disorders, 2022
35761184 (PubMed )
Supplement: 11689_2022_9449_MOESM1_ESM.xlsx › Sheet1
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
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
A glutamine residue conserved in the neurotransmitter:sodium:symporters is essential for the interaction of chloride with the GABA transporter GAT-1.
Ben-Yona A et al.
The Journal of Biological Chemistry, 2011
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