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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution
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Child
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Child, Preschool
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Comorbidity
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Epilepsy, Generalized / epidemiology
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Epilepsy, Generalized / genetics*
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Female
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Genetic Linkage
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Genetic Markers
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Genetic Testing
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Haplotypes / genetics
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Humans
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Infant
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Infant, Newborn
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Male
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Mutation
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Nerve Tissue Proteins / genetics
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Pedigree
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Phenotype
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Protein Subunits*
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Queensland / epidemiology
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Seizures, Febrile / epidemiology
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Seizures, Febrile / genetics*
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Sodium Channels / genetics*
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Voltage-Gated Sodium Channel beta-2 Subunit
Substances
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Genetic Markers
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Nerve Tissue Proteins
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Protein Subunits
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SCN2B protein, human
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Sodium Channels
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Voltage-Gated Sodium Channel beta-2 Subunit