Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.I198N
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EPM2A

NM_005670.4:p.I198N

Associated Papers

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Razmeh S et al.

Journal of Neurology, 2025

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.

Singh S et al.

Human Mutation, 2009

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

Ganesh S et al.

Journal of Human Genetics, 2006

Lafora disease due to EPM2B mutations: a clinical and genetic study.

Gómez-Abad C et al.

Neurology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."