Associated Papers
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
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