TY  - JOUR
A1  - Martin, Sarah
A1  - Strzelczyk, Adam
A1  - Lindlar, Silvia
A1  - Krause, Kristina
A1  - Reif, Philipp Sebastian
A1  - Menzler, Katja
A1  - Geburtig-Chiocchetti, Andreas
A1  - Rosenow, Felix
A1  - Knake, Susanne
A1  - Klein, Karl Martin
T1  - Drug-resistant juvenile myoclonic epilepsy: Misdiagnosis of progressive myoclonus epilepsy
T2  - Frontiers in neurology
N2  - 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 (p = 0.025), cognitive impairment (p < 0.001), febrile seizures in first-degree relatives (p = 0.023) and prominent dialeptic seizures (p = 0.009) where significantly more frequent in group DR. Individuals with PME are rarely found among drug-resistant alleged JME patients in a tertiary epilepsy center. Even a very detailed review by experienced epileptologists may not identify the presence of PME before the typical features evolve underpinning the need for early genetic testing in drug-resistant JME patients.
KW  - epilepsy
KW  - genetics
KW  - Lafora disease
KW  - progressive myoclonus epilepsy
KW  - juvenile myoclonic epilepsy
KW  - pharmacoresistance
Y1  - 2019
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/52541
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-525415
SN  - 1664-2295
N1  - Copyright © 2019 Martin, Strzelczyk, Lindlar, Krause, Reif, Menzler, Chiocchetti, Rosenow, Knake and Klein. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
VL  - 10
IS  - Art. 946
SP  - 1
EP  - 6
PB  - Frontiers Research Foundation
CY  - Lausanne
ER  -