Article
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
Neurology - 20 Feb 2018
van den Ameele Jelle, Jedlickova Ivana, Pristoupilova Anna, Sieben Anne, Van Mossevelde Sara, Ceuterick-de Groote Chantal, Hůlková Helena, Matej Radoslav, Meurs Alfred, Van Broeckhoven Christine, Berkovic Samuel F, Santens Patrick, Kmoch Stanislav, Dermaut Bart
Abstract excerpt
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...
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