ArticleCNS neuroscience & therapeutics2014
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.
Article in CNS neuroscience & therapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment.Clinical and translational science · 2021Pooled it
- Review
- Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.CNS neuroscience & therapeutics · 2019Article
- Pharmacogenomics in epilepsy.Neuroscience letters · 2018Review
- [Research advances in hereditary epilepsy and precision drug therapy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Review
- Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.Medicine · 2017Observational
- Establishing Prediction Model of Antiepileptic Drugs Response using Data Mining Approach.CNS neuroscience & therapeutics · 2016Article
- Novel susceptibility loci were found in Chinese genetic generalized epileptic patients by genome-wide association study.CNS neuroscience & therapeutics · 2014Article
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsThe 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.
methodsThe 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.
resultsGenotype 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.
conclusionThis 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.
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