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GTR Home > Conditions/Phenotypes > Epilepsy, familial adult myoclonic, 2

Epilepsy, familial adult myoclonic, 2

Synonyms
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT

Summary

Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCME, BAFME2, FAME, FAME2, FCMTE2, GTT1, STARD7
    Summary: StAR related lipid transfer domain containing 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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