GTR Home > Conditions/Phenotypes > Epilepsy with grand mal seizures on awakening

Summary

Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG). For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG (600669), EJM (254770), and EJA (607631). [from OMIM]

Associated genes

  • Also known as: CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, CLCN2
    Summary: chloride channel, voltage-sensitive 2

Clinical features

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  • Generalized tonic-clonic seizures on awakening
  • Absence seizures
  • Generalized myoclonic seizures

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