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GTR Home > Conditions/Phenotypes > Epilepsy, progressive myoclonic, 12

Epilepsy, progressive myoclonic, 12

Summary

Progressive myoclonic epilepsy-12 (EPM12) is an autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety (summary by Mazzola et al., 2021). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM12, Iwr1, SLC7A6OS
    Summary: solute carrier family 7 member 6 opposite strand

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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