Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8683935 | Epilepsy & Behavior Case Reports | 2018 | 16 Pages |
Abstract
A 15-year-old boy experienced myoclonic seizures for 3Â 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 4Â mg/day of perampanel was started and was gradually titrated to 10Â 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 20Â months. Sialidosis was confirmed by the mutations of NEU1 gene.
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Authors
Su-Ching Hu, Kun-Long Hung, Hui-Ju Chen, Wang-Tso Lee,