期刊
NEUROLOGICAL SCIENCES
卷 41, 期 8, 页码 2267-2270出版社
SPRINGER-VERLAG ITALIA SRL
DOI: 10.1007/s10072-020-04377-7
关键词
Lafora disease; EPM2A; Progressive myoclonic epilepsy; Heterozygous mutation; Chinese family
资金
- National Natural Science Foundation of China [81, 701, 182]
- Hunan Provincial Science and Technology Department, China [2019SK1012]
EPM2A has been certified as a causative gene in patients with Lafora disease (LD), which is a rare autosomal recessive and severe form of progressive myoclonus epilepsy. LD classically starts in adolescence, characterized by various types of seizure with myoclonic seizure as the main type. Typically within 10 years, intractable seizure attack, rapidly progressing dementia, and a vegetative state were present. LD is particularly frequently found in Mediterranean countries. Here, we report a Chinese family with a novel compound heterozygous mutation in the EPM2A gene, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline.
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