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http://purl.uniprot.org/citations/16023832http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16023832http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Mutation analysis of the gene encoding the GABA delta subunit (GABRD) identified a common missense variation (c.659G>A; Arg220His) of which the His220 allele displayed decreased GABA(A) alpha(1)beta(2)delta receptor current amplitudes. The present association study tested whether the functional GABRD His220 allele confers susceptibility to common syndromes of idiopathic generalized epilepsy (IGE).

Methods

Five hundred and sixty two unrelated German IGE patients and 664 healthy population controls were genotyped for the c.659G>A polymorphism in exon 6 of the GABRD gene.

Results

His220 allele frequencies did not differ significantly between IGE patients (2.3%) and the controls (2.8%; P=0.46). Likewise, no evidence for an allelic association was found with juvenile myoclonic epilepsy (n=218; 2.8%; P=0.97) or idiopathic absence epilepsy (n=260; 2.3%; P=0.56).

Conclusion

Our results provide no evidence that the functional GABRD His220 allele mediates a substantial susceptibility effect to common IGE syndromes in the German population."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.org/dc/terms/identifier"doi:10.1016/j.eplepsyres.2005.04.005"xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/author"Sander T."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/author"Lorenz S."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/author"Heils A."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/author"Hempelmann A."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/author"Lenzen K.P."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/name"Epilepsy Res"xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/pages"53-57"xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/title"Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy."xsd:string
http://purl.uniprot.org/citations/16023832http://purl.uniprot.org/core/volume"65"xsd:string
http://purl.uniprot.org/citations/16023832http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/16023832
http://purl.uniprot.org/citations/16023832http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/16023832
http://purl.uniprot.org/uniprot/#_A8K496-mappedCitation-16023832http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16023832
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http://purl.uniprot.org/uniprot/O14764http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16023832
http://purl.uniprot.org/uniprot/A8K496http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16023832