Myoclonic Absence Seizures in Dravet Syndrome
Kenneth A Myers, Ingrid E Scheffer
PEDIATRIC NEUROLOGY | ELSEVIER SCIENCE INC | Published : 2017
BACKGROUND: Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. The core clinical features of Dravet syndrome include febrile and afebrile seizures beginning before 12 months; multiple seizure types, usually medically refractory, including hemiclonic, generalized tonic-clonic, focal impaired awareness, myoclonic, and absence seizures; status epilepticus; and normal early development with plateau or regression by age two years. Myoclonic absence seizures have not previously been described. PATIENT DESCRIPTION: This 20-year-old man had infantile-onset epilepsy with the classical clinical features o..View full abstract
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Awarded by National Health and Medical Research Council
This work was supported by the National Health and Medical Research Council (project grant number 628952 and practitioner fellowship number 1006110 [for Prof. Scheffer]).