Myoclonic Absence Seizures in Dravet Syndrome

Publication date: Available online 24 January 2017
Source:Pediatric Neurology
Author(s): Kenneth A. Myers, Ingrid E. Scheffer
BackgroundDravet syndrome is a developmental and epileptic encephalopathy that occurs due to SCN1A mutations in more than 80% of cases. 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 two years. Myoclonic absence seizures have not previously been described.CaseA 20-year-old man had infantile onset epilepsy with the classical clinical features of Dravet syndrome and a de novo A1326P SCN1A mutation. By five years of age, photosensitive myoclonic absence seizures had become his dominant seizure type, occurring up to 20 times per day. The seizures were refractory to multiple anti-epileptic medications and a vagal nerve stimulator.DiscussionAlthough photosensitivity is well recognised in Dravet syndrome, myoclonic absence seizures have not been previously reported. This rare seizure type may be underreported in Dravet as the myoclonic features may be subtle and can be missed if thorough history-taking and video recordings are not available.



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