RS121917971 SCN1A
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What This Variant Does
"CLNSIG=5
Associated Conditions
Severe myoclonic epilepsy in infancy
Seizure
Generalized epilepsy with febrile seizures plus
type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Seizure
Generalized epilepsy with febrile seizures plus
type 2
Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Early-infantile DEE
Other Variants in SCN1A