Article
A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2020
Fu Yujiao, Zhou Chaojun, Song Rui, Peng Jinxin, Yang Xiaosu, Xiao Bo, Zhou Jinxia, Long Hongyu
Abstract excerpt
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...
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