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Epilepsy, juvenile absence, susceptibility to, 1

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Description

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 EJA2 (see 607628), which is conferred by mutation in the CLCN2 gene (600570) on chromosome 3q26.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

15

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Genes

External Links

  • OMIM

    607631

  • Orphanet
  • HPO
  • Medgen

    C2750892

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