A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease
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DOI: 10.1007/s10072-020-04377-7
Abstract: 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… read more here.
Keywords: lafora disease; novel compound; heterozygous epm2a; compound heterozygous ... See more keywords