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GTR Home > Conditions/Phenotypes > Myoclonic epilepsy, juvenile, susceptibility to, 1

Myoclonic epilepsy, juvenile, susceptibility to, 1

Synonyms
EJM1; Myoclonic Epilepsy, Juvenile, 1

Summary

Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997). Genetic Heterogeneity of Juvenile Myoclonic Seizures Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q23; EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q27; and EJM10 (617924), by variation in the ICK gene (612325) on chromosome 6p12. In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36. EJM7 (see 613060) was thought to be caused by variation in the GABRD gene (137163.0002) on 1p36, but the variant was reclassified as a polymorphism. [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EJM1, POC9, RIB72, dJ304B14.2, EFHC1
    Summary: EF-hand domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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