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Article

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Journal of human genetics - 1 May 2012

Singh Shweta, Ganesh Subramaniam

Abstract excerpt

Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterized by recurrent epileptic seizures and progressive decline in intellectual function. LD can be caused by defects in any of the two known genes and the clinical features of these two...

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PMID: 22456482
DOI: 10.1038/jhg.2012.29

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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