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GTR Home > Conditions/Phenotypes > Myoclonus, familial, 2

Myoclonus, familial, 2

Summary

Familial myoclonus-2 (MYOCL2) is an autosomal dominant neurologic condition characterized by childhood onset of isolated action-induced nonepileptic myoclonus affecting the upper limbs. The disorder is nonprogressive (Wagnon et al., 2018). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4, SCN8A
    Summary: sodium voltage-gated channel alpha subunit 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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