| Summary: | A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of NEU1 gene. Keywords: Progressive myoclonic epilepsy, Sialidosis, Perampanel, NEU1 gene
|
|---|
