Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SLC2A1
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B et al.
Journal of Medical Genetics, 2024
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N et al.
Annals of Clinical and Translational Neurology, 2023
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Wolking S et al.
Journal of Neurology, 2014
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