Epilepsy, childhood absence, susceptibility to, 2; ECA2

Disease ID:305
Name:Epilepsy, childhood absence, susceptibility to, 2; ECA2
Associated with:1 target
Synonyms
Childhood absence epilepsy
Database Links
Disease Ontology: DOID:1825
OMIM: 607681
Orphanet: ORPHA64280

Targets

GABAA receptor γ2 subunit
Role:  Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. Febrile seizures may occur. There are no structural neuropathologic findings in patients with ECA
Side effects:  Generalized tonic-clonic seizures often develop in adolescence
References:  1
Mutations:  GABAA receptor γ2 subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, childhood absence, susceptibility to, 2; ECA2

References

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1. Crunelli V, Leresche N. (2002) Childhood absence epilepsy: genes, channels, neurons and networks. Nat. Rev. Neurosci., 3 (5): 371-82. [PMID:11988776]

2. Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK. (2002) A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol., 59 (7): 1137-41. [PMID:12117362]

3. Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. (2003) Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain, 126 (Pt 1): 230-40. [PMID:12477709]

4. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE et al.. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet., 28 (1): 49-52. [PMID:11326275]