Abstract
Generalized epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous syndrome with childhood onset, characterized by febrile seizures (FS) and a variety of afebrile epileptic seizure types. The authors performed a mutational analysis of SCN1B on 74 unrelated probands with GEFS+, FS, or FS plus (FS+). In a family with FS+ and early-onset absence epilepsy, a mutation was identified that predicts a deletion of five amino acids in the extracellular immunoglobulin-like domain of SCN1B and potential loss of function. SCN1B mutations are associated with GEFS+ and may have a role in the elicitation of absence seizures.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Child, Preschool
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DNA Mutational Analysis
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Epilepsy, Absence / epidemiology
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Epilepsy, Absence / genetics*
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Exons / genetics
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Female
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Genotype
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Humans
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Hydrophobic and Hydrophilic Interactions
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Infant
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Ion Channel Gating
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Male
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Pedigree
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Protein Conformation
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Protein Folding
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Protein Structure, Tertiary
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Protein Subunits
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RNA Splice Sites / genetics
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RNA, Messenger / genetics
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Seizures, Febrile / genetics*
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Sequence Deletion*
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Sodium / metabolism
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Sodium Channels / chemistry
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Sodium Channels / genetics*
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Structure-Activity Relationship
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Voltage-Gated Sodium Channel beta-1 Subunit
Substances
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Protein Subunits
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RNA Splice Sites
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RNA, Messenger
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SCN1B protein, human
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Sodium Channels
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Voltage-Gated Sodium Channel beta-1 Subunit
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Sodium