Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Damiano JA et al.
Annals of Neurology, 2020
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS et al.
Journal of Neurogenetics, 2013
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
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