Febrile Convulsions, Familial 8, FEB8
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: | 370 | |
| Name: | Febrile Convulsions, Familial 8, FEB8 | |
| Associated with: | 1 target | |
| Synonyms |
| Generalized epilepsy with febrile seizures-plus |
| Database Links |
|
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: | Childhood convulsions associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between six months and six years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause (Nabbout et al., 2002). Wallace et al. (2001) reported a four-generation family in which febrile convulsions and childhood absence epilepsy (ECA2; 607681) occurred alone or in combination. The two syndromes have different ages of onset, and the physiology of absences and convulsions is distinct. All affected individuals were found to have the same mutation in the GABRG2 gene (R43Q; 137164.0002). The clinical and molecular data suggest that the γ2 subunit mutation alone can account for the febrile seizure phenotype. An interaction of this gene with another gene or genes is required for the CAE phenotype in this family (Marini et al 2003) |
| References: | 3-5 |
| 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 Febrile Convulsions, Familial 8, FEB8
References
1. Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL et al.. (2006) A novel GABRG2 mutation associated with febrile seizures. Neurology, 67 (4): 687-90. [PMID:16924025]
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. Nabbout R, Prud'homme JF, Herman A, Feingold J, Brice A, Dulac O, LeGuern E. (2002) A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain, 125 (Pt 12): 2668-80. [PMID:12429594]
5. 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]
