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http://purl.uniprot.org/citations/24279416http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24279416http://www.w3.org/2000/01/rdf-schema#comment"

Aims

The causes of genetic generalized epilepsies (GGEs) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (KCNT1) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between KCNT1 common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population.

Methods

The allele-specific MALDI-TOF mass spectrometry method was used to assess 17 tagSNPs (tagged single-nucleotide polymorphisms) of KCNT1 in 284 healthy Chinese controls and 483 Chinese GGEs patients including 279 anti-epileptic drug-responsive patients and 204 drug-resistant patients.

Results

Genotype distributions of all the selected tagSNPs were consistent with Hardy-Weinberg equilibrium in GGEs and healthy controls. None of the all 17 tagSNPs alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in GGEs than that in healthy controls (2% vs. 4%, OR = 0.47 [0.27-0.94], P = 0.03) and obviously higher in drug-resistant patients than that in drug-response patients (6% vs. 3%, OR = 2.56 [1.23-5.35], P = 0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in GGEs and healthy controls.

Conclusion

This gene-wide tagging study revealed no association between KCNT1 17 common variations and susceptibility of GGEs or AEDs (anti-epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.org/dc/terms/identifier"doi:10.1111/cns.12169"xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"He H."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Zhang Y."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Zhang Y.'"xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Xiao B."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Qu J."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Tang Q."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Yang Z.Q."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Li X.P."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Liu Z.Q."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Lv N."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Zhou H.H."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Yin J.Y."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Long H.Y."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Xu X.J."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Hu D.L."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Mao X.Y."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/author"Zhou B.T."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/name"CNS Neurosci Ther"xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/pages"140-146"xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/title"Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population."xsd:string
http://purl.uniprot.org/citations/24279416http://purl.uniprot.org/core/volume"20"xsd:string
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