Dravet Syndrome

Description
Developmental epilepsy that emerges during the first year of life with recurrent prolonged seizures, myoclonics, absence, and other seizure types that appear over time. Epilepsy is treatment resistant, prolonged seizures and status epilepticus occurs often,developmental delays occur to most children in some degree.

Other Names & Associated Gene Mutation

  • Severe myoclonic epilepsy of infancy (SMEI)
  • Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures (ICE-GTC)
  • SMEB – Borderland Dravet syndrome without all clinical characteristics

Associated Gene Mutations

SCN1A
SCN1B
SCN2A
GABAA
GABRD
SCN9A

  • Epilepsy with Mental Retardation limited to Females (EMRF)

Associated Gene Mutation:
PCDH19