RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16499773http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Recently a coding nonsynonymous single-nucleotide polymorphism (SNP; G1465A) in the GABBR1 gene was reported to be associated with the incidence and severity of temporal lobe epilepsy (TLE). To clarify the role of this polymorphism in TLE, we attempted to replicate this study.

Methods

We genotyped 188 unrelated patients with TLE (110 women, 78 men) and 259 controls of middle European descent by a restriction-length polymerase chain reaction (PCR) assay.

Results

Only two (0.5%) patients and none of the controls exhibited the heterozygous A/G genotype, which was previously reported to be overrepresented among patients as compared with controls.

Conclusions

Although our study was sufficiently powered, we could not replicate the original association. Potential reasons for this failure could lie in subtle genetic differences between the studied populations or differences in the TLE phenotypes."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.org/dc/terms/identifier"doi:10.1111/j.1528-1167.2006.00441.x"xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/author"Zimprich A."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/author"Stogmann E."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/author"Zimprich F."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/author"Baumgartner C."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/author"Gleiss A."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/name"Epilepsia"xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/pages"437-439"xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/title"Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy."xsd:string
http://purl.uniprot.org/citations/16499773http://purl.uniprot.org/core/volume"47"xsd:string
http://purl.uniprot.org/citations/16499773http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/16499773
http://purl.uniprot.org/citations/16499773http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/16499773
http://purl.uniprot.org/uniprot/#_A0A0G2JKF9-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_A0A1U9X7Q3-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_A0A1U9X7Q8-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_A0A1U9X7Q9-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_A0A1U9X7R0-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_A0A1U9X7R1-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_C9J342-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_Q53EM0-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_Q59HG8-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773
http://purl.uniprot.org/uniprot/#_Q5SUJ9-mappedCitation-16499773http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16499773