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GTR Home > Conditions/Phenotypes > Progressive myoclonic epilepsy type 8

Progressive myoclonic epilepsy type 8

Summary

Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by Godeiro et al., 2018). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM8, GDF-1, GDF1, LAG1, LASS1, UOG1, CERS1
    Summary: ceramide synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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