Generalized epilepsy with febrile seizures plus, type 2

Common Name(s)

Generalized epilepsy with febrile seizures plus, type 2

Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years (summary by {4:Mantegazza et al., 2005}), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by {10:Singh et al., 2009}). Dravet syndrome ({607208}), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations. Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.
 

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Condition Specific Organizations

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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