A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
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.
D017668:Age of Onset; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D007223:Infant; D015640:Ion Channel Gating; D008297:Male; D010375:Pedigree; D011487:Protein Conformation; D017510:Protein Folding; D017434:Protein Structure, Tertiary; D021122:Protein Subunits; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics*; D017384:Sequence Deletion; D012964:Sodium / Q000378:metabolism; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics*; D013329:Structure-Activity Relationship; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
D021122:Protein Subunits; D022821:RNA Splice Sites; D012333:RNA, Messenger; C470379:SCN1B protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit; D012964:Sodium