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Mutations in NHLRC1 cause progressive myoclonus epilepsy

✍ Scribed by Chan, Elayne M; Young, Edwin J; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A; Jovic, Nebojsa J

Book ID
109918776
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
199 KB
Volume
35
Category
Article
ISSN
1061-4036

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Lafora progressive myoclonus epilepsy:NH
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Lafora disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence. The two genes known to be involved in Lafora disease ar

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Communicated by Alastair F. Brown Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. It is characterized by pathognomonic inclusions, Lafora bodi