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|Title:||Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B|
|Citation:||Neurology, 2002; 58(9):1426-1429|
|Publisher:||Lippincott Williams & Wilkins|
|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.|
|Keywords:||Humans; Epilepsy, Generalized; Seizures, Febrile; Sodium Channels; Nerve Tissue Proteins; Protein Subunits; Genetic Markers; Amino Acid Substitution; Pedigree; Comorbidity; Haplotypes; Phenotype; Mutation; Child; Child, Preschool; Infant; Infant, Newborn; Queensland; Female; Male; Genetic Testing; Genetic Linkage; Voltage-Gated Sodium Channel beta-2 Subunit|
|Description:||Copyright © 2002 American Academy of Neurology|
|Appears in Collections:||Paediatrics publications|
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