Febrile Convulsions, Familial 8, FEB8

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

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

No ligand related data available for Febrile Convulsions, Familial 8, FEB8

References

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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]