RS121918622 SCN1A
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What This Variant Does
"Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. [OMIM:?]
Associated Conditions
Generalized epilepsy with febrile seizures plus
type 2
Severe myoclonic epilepsy in infancy
Autosomal dominant epilepsy
Early-infantile DEE
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
type 2
Severe myoclonic epilepsy in infancy
Autosomal dominant epilepsy
Early-infantile DEE
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Other Variants in SCN1A