Article
Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2022
Liang Tao, Wu Jing, Chen Hongxing, Qian Jun, Xu Zhongxiang
Abstract excerpt
We report a case of progressive myoclonic epilepsy caused by a novel mutation in EPM2A. The female patient experienced abnormal jerky movements of the involving all four limbs and several generalized seizures, degeneration of cognition, and unsteadiness. Genetic analysis identified two rare, deleterious mutations in exon4: chr6: 145,948,751(c.G797G > A) and chr6: 145,948,761(c.T787C > T). The mutations at these...
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