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GENATLAS PHENOTYPE
last update : 28-01-2009
Symbol GEFSP1
Location 19q13.12
Name generalized epilepsy with febrile seizures plus, 1
Corresponding gene SCN1B
Other symbol(s) GEFS, GEFS1
Main clinical features
  • a familial epilepsy syndrome characterized by phenotypic and genetic heterogeneity.
  • children with febrile seizures persisting beyond 6 years that later develop ongoing epilepsy
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name SCN1B sodium voltage-gated channel type 1, beta 1 subunit
    Remark(s)