Linked Life Data

12742596

Source:http://linkedlifedata.com/resource/pubmed/id/12742596

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-5-13
pubmed:abstractText
Febrile convulsions (FCs) represent the majority of childhood seizures, and patients have a genetic predisposition to their development. The genetic susceptibility to FCs seems to involve multiple genes in most instances. Recent studies provided evidence that mutations in SCN1A represent the most frequent cause of generalized epilepsy with febrile seizures plus an autosomal-dominant epilepsy syndrome. SCN1A mutations alter channel inactivation, resulting in persistent inward sodium current. It is not known if polymorphisms in those genes involved in familial epilepsies also contribute to the pathogenesis of FCs. By performing an association study, we used single nucleotide polymorphisms to investigate the distribution of genotypes of SCN1A in patients with FCs. A total of 104 Taiwanese children with FCs and 83 normal control subjects were included in the study. Polymerase chain reaction was used to identify the A/G polymorphism of the SCN1A gene. The results showed that genotypes and allelic frequencies for the SCN1A gene polymorphisms in both groups were not significantly different. These data suggest that the SCN1A gene might not be one of the susceptibility factors for FCs. Pure FCs and febrile convulsions associated with idiopathic generalized epilepsy may not share a common genetic etiology.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0920-1211
pubmed:author
pubmed:issnType
Print
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-7
pubmed:dateRevised
2006-10-26
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
The lack of association between febrile convulsions and polymorphisms in SCN1A.
pubmed:affiliation
Department of Pediatrics, China Medical College Hospital, No. 2 Yuh-Der Road, Taichung, Taiwan.
pubmed:publicationType
Journal Article