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GTR Home > Conditions/Phenotypes > Epilepsy, familial adult myoclonic, 5

Epilepsy, familial adult myoclonic, 5

Synonyms
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5

Summary

Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023). For a discussion of genetic heterogeneity of EPEO, see 617290. [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AXT, EPEO5, FAME5, TAG-1, TAX, TAX1, CNTN2
    Summary: contactin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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