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
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A et al.
Brain : a Journal of Neurology, 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
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
Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.
Cheng JZ et al.
Brain : a Journal of Neurology, 2021
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
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM et al.
Epilepsia, 2018