Research Area:  Machine Learning
Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phenobarbital unexpectedly achieved complete remission of epilepsy.A 10-year-old boy was referred to our hospital because of pharmaco-resistant frequent myoclonic absence seizures (MASs) and occasional generalized tonic-clonic seizures (GTCSs) that had commenced at the age of 7 years. Antiepileptic drugs including valproate sodium (VPA), levetiracetam, ethosuximide (ESM), clobazam, zonisamide, topiramate, clonazepam and lamotrigine were tested without significant effects. At the age of 8 years, phenobarbital was added to the VPA and ESM and increased to 1.2 mg/kg/day (blood concentration 8.6 µg/mL), which suppressed MASs completely within 1 month, and epileptic discharges on electroencephalography (EEG) within 5 months. To date, the boy has been seizure-free with normal EEG for 2 years. Phenobarbital is a potential therapeutic option for pharmaco-resistant EMA.
Keywords:  
Author(s) Name:  Susumu Ito, Kaoruko Nagumo, Aiko Nishikawa, Hirokazu Oguni, Satoru Nagata
Journal name:  Brain and Development
Conferrence name:  
Publisher name:  Elsevier
DOI:  10.1016/j.braindev.2020.12.018
Volume Information:  Volume 43, Issue 5, May 2021, Pages 666-668
Paper Link:   https://www.sciencedirect.com/science/article/abs/pii/S0387760420303533