Journal article
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
J Van Den Ameele, I Jedlickova, A Pristoupilova, A Sieben, S Van Mossevelde, C Ceuterick-de Groote, H Hůlková, R Matej, A Meurs, C Van Broeckhoven, SF Berkovic, P Santens, S Kmoch, B Dermaut
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2018
Abstract
Background The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. Objective To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME. Results We report a 33-year old woman who had epilepsy since the age of 15 and then developed progressive cognitive deteriora..
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Awarded by Univerzita Karlova v Praze
Funding Acknowledgements
I.J., A.P., and S.K. are supported by grants 269615 from the Charles University Grant Agency and 14-36804 G from the Grant Agency of the Czech Republic. Institutional support was provided by Charles University institutional programs PRVOUK-P24/LF1/3, UNCE 204011, and SVV2017/260367, and by the project LQ1604 NPU II from the Ministry of Education, Youth and Sports of the Czech Republic. R.M. and H.H. are supported by project of the Ministry of Health, Czech Republic (Conceptual development of research organization 64165, General University Hospital in Prague) and by Charles University (Project Progres Q28/LF1). C.V.B. is supported by the Interuniversity Attraction Poles program P7/16 of the Belgian Science Policy Office (BELSPO), the Flemish initiated Impulse Program on Networks for Dementia Research (VIND), and the Flemish government initiated Methusalem Excellence Program. B.D. is supported by the Interuniversity Attraction Poles program P7/16 of the Belgian Science Policy Office (BELSPO), Inserm, the Universite de Lille, the Fondation Plan Alzheimer, the LABEX (laboratory of excellence program investment for the future) DISTALZ grant (Development of Innovative Strategies for a Transdisciplinary approach to Alzheimer's disease) and INSTALZ, an EU Joint Programme-Neurodegenerative Disease Research (JPND) project. The INSTALZ project is supported through the following funding organizations under the aegis of JPND (Belgium, Research Foundation Flanders; Denmark, Innovation Fund Denmark; France, Agence Nationale de la Recherche; Sweden, Swedish Research Council; United Kingdom, Medical Research Council). The project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement 643417.