Associated Papers
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A et al.
Brain : a Journal of Neurology, 2023
37647852 (PubMed )
Supplement: awad292_supplementary_data.zip › brain-2022-02416-File005.xlsx › GnomAD_variants
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
37700749 (PubMed )
Supplement: Table_1.XLSX › Data
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