Dravet syndrome

Also known as: Severe myoclonic epilepsy of infancy

Epileptic encephalopathy with febrile seizure onset.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric neurology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset in first year
Gene(s) involved: GABRG2, PCDH19, SCN1A, SCN1B

Etiology & mechanism

SCN1A loss of function.

Gene(s) involved (4)

GABRG2PCDH19SCN1ASCN1B

Symptoms & signs (5)

ataxiadevelopmental regressionmyoclonusprolonged febrile seizuressudden unexpected death in epilepsy

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