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Epilepsy, juvenile absence, susceptibility to, 1

Summary

Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see 600669). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; 600131), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures are the main features of JAE. (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Genetic Heterogeneity of Juvenile Absence Epilepsy See also susceptibility to juvenile absence epilepsy-2 (EJA2; see 607628), conferred by variation in the CLCN2 gene (600570) on chromosome 3q26. [from OMIM]

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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