Epilepsy, childhood absence, susceptibility to, 2; ECA2
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| 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
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| 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
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Epilepsy, childhood absence, susceptibility to, 2; ECA2
References
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]
