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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Audenaert, D., Claes, L., Ceulemans, B., Löfgren, A., Van Broeckhoven, C., De Jonghe, P. Neurology (2003) [Pubmed]
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