Seizure Remission and Improvement of Neurological Function in Sialidosis with Perampanel Therapy

Publication date: Available online 12 March 2018 Source:Epilepsy & Behavior Case Reports Author(s): Su-Ching Hu, Kun-Long Hung, Hui-Ju Chen, Wang-Tso Lee A 15-year-old boy experienced myoclonic seizures for 3years. 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 4mg/day of perampanel was started and was gradually titrated to 10mg/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 20months. Sialidosis was confirmed by the mutations of NEU1 gene.
Source: Epilepsy and Behavior Case Reports - Category: Neurology Source Type: research