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GTR Home > Conditions/Phenotypes > Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy type 6

Summary

Progressive myoclonic epilepsy-6 (EPM6) is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Bos1, EPM6, GS27, MYOS, GOSR2
    Summary: golgi SNAP receptor complex member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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