Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

  • Wallace R
  • Scheffer I
  • Parasivam G
 et al. 
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Abstract

Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.

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Authors

  • Robyn H. Wallace

  • I. E. Scheffer

  • G. Parasivam

  • S. Barnett

  • G. B. Wallace

  • G. R. Sutherland

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