Generalized epilepsy with febrile seizures plus; type 3; GEFSP3
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: | 390 | |
| Name: | Generalized epilepsy with febrile seizures plus; type 3; GEFSP3 | |
| Associated with: | 1 target | |
| Synonyms |
| Generalized epilepsy with febrile seizures-plus |
| Database Links |
|
Disease Ontology:
DOID:0060170 OMIM: 611277 Orphanet: ORPHA36387 |
Targets
GtoPdb Disease Summaries - Targets
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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: | Febrile seizures (OMIM 121210) affect approximately 3% of children under six years of age and are by far the most common seizure disorder. A small proportion of children with febrile seizures later develop ongoing epilepsy with febrile seizures. Segregation analysis suggests that most cases of febrile seizures have complex inheritance, but rare families show apparent autosomal dominant inheritance. Several loci, e.g., FEB1 (121210) on 8q and FEB2 (602477) on 19p, have been related to familial febrile convulsions. Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset, termed 'generalized epilepsy with febrile seizures plus' (GEFS+), in which patients express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity |
| References: | 3-4 |
| Mutations: | GABAA receptor γ2 subunit is associated with 3 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
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- 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 Generalized epilepsy with febrile seizures plus; type 3; GEFSP3
References
1. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet, 28 (1): 46-8. [PMID:11326274]
2. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF et al.. (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet, 70 (2): 530-6. [PMID:11748509]
3. Scheffer IE, Berkovic SF. (1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain, 120 ( Pt 3): 479-90. [PMID:9126059]
4. Singh R, Scheffer IE, Crossland K, Berkovic SF. (1999) Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol, 45 (1): 75-81. [PMID:9894880]
5. Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X. (2008) SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. J Hum Genet, 53 (8): 769-74. [PMID:18566737]
