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idiopathic generalized epilepsy

MIM.600669 18q21, 14q23, 9q32-q33, 8q24, 6q24-q25, 2q22-q23

Tuesday 22 April 2008

There are several subtypes of idiopathic generalized epilepsy (IGE) and, within these subtypes, different genes have been associated with the disorders.

Idiopathic generalized epilepsy is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities.

In idiopathic generalized epilepsy, all seizures are initially generalized with an EEG expression that is a generalized, bilateral, synchronous, symmetrical discharge.

Susceptibility loci for IGE have also been identified:
- EIG1, MIM.606970
- EIG2, MIM.606972
- EIG3, MIM.608762
- EIG4, MIM.609750
- EIG5, MIM.611934

There is suggestive evidence that malic enzyme-2 (ME2) (MIM.154270) may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.

Defects in mitochondrial glutamate transport have been identified in neonatal myoclonic epilepsy with suppression-burst pattern (MIM.609304) on the basis of mutations in the SLC25A22 gene (MIM.609302).

The various syndromes that comprise IGE include:
- benign neonatal familial convulsions (MIM.121200, MIM.121201, MIM.608217, and MIM.269720)
- childhood absence epilepsy (CAE) (MIM.600131)
- juvenile absence epilepsy (JAE) (MIM.607631)
- juvenile myoclonic epilepsy (JME) (MIM.606904)
- epilepsy with grand mal seizures on awakening (EGMA) (MIM.607628)

(Commission on Classification and Terminology of the International League Against Epilepsy, 1989).

See also

- epilepises

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