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Browse result for Dravet syndrome

※ introduction

    A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.

Reference
DiseaseOntology: Dravet syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01090P354986323
SCN1A
Sodium channel protein type 1 subunit alpha
Homo sapiens