Generalized epilepsy with febrile seizures plus, type 1

Common Name(s)

Generalized epilepsy with febrile seizures plus, type 1

{4:Scheffer and Berkovic (1997)} and {5:Singh et al. (1999)} described a clinical subset of febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS+). Classic febrile seizures (see, e.g., FEB1, {121210}) affect approximately 3% of children under 6 years of age and are by far the most common seizure disorder; classic febrile seizures typically spontaneously remit by age 6 years. GEFS+ occurs in a small proportion of children with febrile seizures who either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Patients with GEFS+ express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, absence seizures, partial seizures, myoclonic seizures, or atonic seizures, with a variable degree of severity (summary by {7:Wallace et al., 1998}). {2:Deprez et al. (2009)} reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of GEFS+ GEFS+ is a genetically heterogeneous disorder. See also GEFS+2 ({604403}), caused by mutation in the SCN1A gene ({182389}) on chromosome 2q24; GEFS+3 ({611277}), caused by mutation in the GABRG2 gene ({137164}) on 5q34; GEFS+5 ({613060}), associated with variation in the GABRD ({137163}) gene on 1p36; GEFS+7 ({613863}), caused by mutation in the SCN9A gene ({603415}) on 2q24; and GEFS+9 ({616172}), caused by mutation in the STX1B gene ({601485}) on chromosome 16p11. Several putative loci have also been identified. See GEFS+4 ({609800}), which maps to chromosome 2p24; GEFS+6 ({612279}), which maps to chromosome 8p23-p21; and GEFS+8 ({613828}), which maps to chromosome 6q16.3-q22.31. Also see Associations Pending Confirmation under MOLECULAR GENETICS.
 

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