Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
نویسندگان
چکیده
منابع مشابه
Unusual Course of Lafora Disease
A 42-year-old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work-up included application of next-generation sequencing (NGS), with a gene panel targeting progres...
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متن کاملLafora disease diagnosed by liver biopsy.
A patient with progressive myoclonus epilepsy and Lafora bodies in the central nervous system also has a material with staining properties similar to polyglucosans in other organs. This suggests that Lafora disease is a glycometabolic disorder (Harriman et al. 1955). Liver biopsy (Inoue et al. 1974; Nishimura et al. 1980), muscle biopsy (Carpenter et al. 1974) and skin biopsy (Carpenter et al. ...
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Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is ac...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2014
ISSN: 0013-9580
DOI: 10.1111/epi.12806