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Myoclonic epilepsy of Lafora 2

Synonyms
EPILEPSY, PROGRESSIVE MYOCLONIC, 2B; LAFORA DISEASE 2

Summary

The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). There is a slower progression of disease and later age at death in Lafora disease-2 than in Lafora disease-1 (MELF1, EPM2A; 254780); see Genotype/Phenotype Correlations. Myoclonic epilepsy of Lafora-1 is caused by mutation in the EPM2A gene (608072), which encodes laforin, on chromosome 6q24. For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM2A, EPM2B, MALIN, MELF2, bA204B7.2, NHLRC1
    Summary: NHL repeat containing E3 ubiquitin protein ligase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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