Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.

TitleDrug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.
Publication TypeJournal Article
Year of Publication2019
AuthorsMartin, S, Strzelczyk, A, Lindlar, S, Krause, K, Reif, PS, Menzler, K, Chiocchetti, AG, Rosenow, F, Knake, S, Klein, KMartin
JournalFront Neurol
Date Published2019

Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus epilepsy (PME) as JME has been suggested as a cause of drug-resistance. Medical records of the Epilepsy Center Hessen-Marburg between 2005 and 2014 were automatically selected using keywords and manually reviewed regarding the presence of a JME diagnosis at any timepoint. The identified patients were evaluated regarding seizure outcome and drug resistance according to ILAE criteria. 87/168 identified JME patients were seizure-free at last follow-up including 61 drug-responsive patients (group NDR). Seventy-eight patients were not seizure-free including 26 drug-resistant patients (group DR). Valproate was the most efficacious AED. The JME diagnosis was revised in 7 patients of group DR including 6 in whom the diagnosis had already been questioned or revised during clinical follow-up. One of these was finally diagnosed with PME (genetically confirmed Lafora disease) based on genetic testing. She was initially reviewed at age 29 yrs and considered to be inconsistent with PME. Intellectual disability ( = 0.025), cognitive impairment (

Alternate JournalFront Neurol
PubMed ID31551911
PubMed Central IDPMC6746890
Grant ListU01 HG009088 / HG / NHGRI NIH HHS / United States
UM1 HG008895 / HG / NHGRI NIH HHS / United States