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GTR Home > Conditions/Phenotypes > Progressive myoclonic epilepsy type 7

Progressive myoclonic epilepsy type 7

Summary

Progressive myoclonic epilepsy-7 (EPM7) is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by Muona et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM7, KV3.1, KV4, NGK2, KCNC1
    Summary: potassium voltage-gated channel subfamily C member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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