- Human pathology

Home > E. Pathology by systems > Nervous system > Central nervous system > Brain > childhood absence epilepsy

childhood absence epilepsy

MIM.607681 MIM.607682 MIM.600570

Tuesday 22 April 2008

Childhood absence epilepsy accounts for 5-15% of pediatric generalized epilepsy. This is another very well-described childhood epilepsy syndrome, characterized by a peak onset in mid-childhood of typical absence seizures occurring multiple times per day with an abrupt onset and end, without an apparent postictal phase.

Electroencephalograms reveal bilateral, synchronous, generalized 3-Hz spikes and waves, typically triggered by hyperventilation. The response to medication (ethosuximide or valproic acid) is usually excellent, and most patients experience an eventual resolution of their absence seizures, whereas approximately 30-40% will develop generalized tonic-clonic seizures in adolescence.

The disorder is inherited as an autosomal-dominant trait and is linked to chromosome 8q (childhood absence epilepsy type 1) [89].

Mutations of the GABRG2 gene (GABA receptor) on chromosome 5q (childhood absence epilepsy type 2) were also shown to cause childhood absence epilepsy, as were mutations of the CLCN2 gene (chloride channel) on chromosome 3q (childhood absence epilepsy type 3).

Mutations of the CACNA1H (calcium channel) gene on chromosome 16p may also be responsible for some cases.


- ECA1
- ECA2
- ECA3
- ECA4 (MIM.611136)

See also

- channelopathies