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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

20 tests are in the database for this condition.

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Clinical tests (20 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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