Abstract
Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS +) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.
Original language | English |
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Pages (from-to) | 559-562 |
Number of pages | 4 |
Journal | Epilepsia |
Volume | 43 |
Issue number | 5 |
DOIs | |
Publication status | Published - 2002 |
Keywords
- Febrile convulsions
- Genetics
- Idiopathic epilepsy
- Ion channels
- Mutations
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)