Progressive Myoclonus Epilepsy With Demyelinating Peripheral Neuropathy and Preserved Intellect
نویسندگان
چکیده
منابع مشابه
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
OBJECTIVE To report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy. DESIGN Case report. SETTING Epilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center. PATIENT A 27-year old male patient with PME with preserved intellect and peripheral neuropathy...
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Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients ...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2009
ISSN: 0003-9942
DOI: 10.1001/archneurol.2009.131