Annotation of rs11103182

Allele G is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.

No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).

From Publication

Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. CNS neuroscience & therapeutics. 2014. Qu Jian et al.
PMID:24279416(opens in new window) PMCID:PMC6493076(opens in new window) DOI:10.1111/cns.12169(opens in new window)

Gene

KCNT1

Variant

rs11103182

Phenotype Category

Efficacy

Association Significance

The study reports this association is not significant

PharmGKB ID

1183699038

Score
More info on scoring

-1.75

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    cohort

    Study size

    483 (cases=204; controls=279)

    Association p-value

    = 0.49

    Biogeographical group
    More info on groups

    East Asian

    Population description

    Disease: Genetic generalized epilepsies. Antiepileptic drugs included: carbamazepine, valproic acid, phenytoinum, phenobarbital, lamotrigine, levetiracetam, topiramate and oxcarbazepine.

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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