ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.Journal of neurology · 2025Article
- Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred.Journal of human genetics · 2025Article
- A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease.Acta neurologica Belgica · 2024Article
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5 authors at 2 institutions in 1 country.
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Abstract
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 two loci were from the genomes of their mother and father, respectively, which were compound heterozygous variations. This report updates the mutation sites of gene EPM2A and extends genotype-phenotype correlations in Lafora disease.
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