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GTR Home > Conditions/Phenotypes > Epilepsy, idiopathic generalized, susceptibility to, 18

Summary

Idiopathic generalized epilepsy is characterized by various types of seizures, including childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures upon awakening (EGTCA). EEG often shows spike-wave discharges. EIG18 is an autosomal dominant disorder manifest as myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment (summary by Becker et al., 2017 and Campostrini et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see 600669. [from OMIM]

Available tests

5 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: BRGDA8, EIG18, SSS2, HCN4
    Summary: hyperpolarization activated cyclic nucleotide gated potassium channel 4

Clinical features

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