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Generalized epilepsy with febrile seizures plus; type 3; GEFSP3

Disease ID:390
Name:Generalized epilepsy with febrile seizures plus; type 3; GEFSP3
Associated with:1 target
Generalized epilepsy with febrile seizures-plus
Database Links
Disease Ontology: DOID:0060170
OMIM: 611277
Orphanet: ORPHA36387


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


No ligand related data available for Generalized epilepsy with febrile seizures plus; type 3; GEFSP3


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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]