Dravet Syndrome
Posted on
June 25, 2024
Let's learn all the facts about a brain pattern called
Dravet Syndrome
!
Dravet Syndrome
Definition of intractable epilepsy - PubMed (nih.gov)
DRAVET SYNDROME (epilepsydiagnosis.org)
Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile, and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behavior impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases).
Both sexes are affected. Birth and neonatal history are normal. The first seizure is associated with a fever in about 60% of cases. Development is typically normal in the first year of life, with plateauing or regression in later years.
The ideal definition still eludes us. Multiple factors including number of antiepileptic drug (AED) failures, seizure frequency and duration of unresponsiveness, etiology, and epilepsy syndromes are considered in formulating the definition of pharmaco-resistant epilepsy. Most definitions used in the literature agree on the number of AED failures, which seem to be 2 or 3, however, the seizure frequency and time factor are varied. The International League Against Epilepsy (ILAE) proposed a definition of drug-resistant epilepsy as a failure of adequate trials of 2 tolerated and appropriately chosen and used AED schedules.