A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease

• Published in: Neurological sciences Vol. 41; no. 8; pp. 2267 - 2270
• Main Authors: Fu, Yujiao, Zhou, Chaojun, Song, Rui, Peng, Jinxin, Yang, Xiaosu, Xiao, Bo, Zhou, Jinxia, Long, Hongyu
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.08.2020; Springer Nature B.V
• Subjects: Adolescent; Brief Communication; China; Cognitive ability; Convulsions & seizures; Dementia disorders; Epilepsy; Humans; Lafora Disease - genetics; Male; Medicine; Medicine & Public Health; Mutation; Mutation - genetics; Myoclonus; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Protein Tyrosine Phosphatases, Non-Receptor - genetics; Psychiatry; Seizures; Ubiquitin-Protein Ligases; Vomiting; China; EPM2A; Chinese family; Heterozygous mutation; Progressive myoclonic epilepsy; Lafora disease
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-020-04377-7

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.