RGD Reference Report - Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy. - Rat Genome Database

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Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.

Authors: Busolin, G  Malacrida, S  Bisulli, F  Striano, P  Di Bonaventura, C  Egeo, G  Pasini, E  Cianci, V  Ferlazzo, E  Bianchi, A  Coppola, G  Elia, M  Mecarelli, O  Gobbi, G  Casellato, S  Marchini, M  Binelli, S  Freri, E  Granata, T  Posar, A  Parmeggiani, A  Vigliano, P  Boniver, C  Aguglia, U  Striano, S  Tinuper, P  Giallonardo, AT  Michelucci, R  Nobile, C 
Citation: Busolin G, etal., Epilepsy Res. 2011 Mar;94(1-2):110-6. doi: 10.1016/j.eplepsyres.2011.01.010. Epub 2011 Feb 18.
RGD ID: 9743959
Pubmed: PMID:21333500   (View Abstract at PubMed)
DOI: DOI:10.1016/j.eplepsyres.2011.01.010   (Journal Full-text)

The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic variants across the KCNAB1 gene and LTE. The allele and genotype frequencies of 14 KCNAB1 intronic SNPs were determined in 142 Italian LTE patients and 104 healthy controls and statistically evaluated. Single SNP analysis revealed one SNP (rs992353) located near the 3'end of KCNAB1 slightly associated with LTE after multiple testing correction (odds ratio=2.25; 95% confidence interval 1.26-4.04; P=0.0058). Haplotype analysis revealed two haplotypes with frequencies higher in cases than in controls, and these differences were statistically significant after permutation tests (Psim=0.047 and 0.034). One of these haplotypes was shown to confer a high risk for the syndrome (odds ratio=12.24; 95% confidence interval 1.32-113.05) by logistic regression analysis. These results support KCNAB1 as a susceptibility gene for LTE, in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
temporal lobe epilepsy susceptibilityIAGP 9743959DNA:snps and haplotypes:multiple (human)RGD 
temporal lobe epilepsy susceptibilityISOKCNAB1 (Homo sapiens)9743959; 9743959DNA:snps and haplotypes:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kcnab1  (potassium voltage-gated channel subfamily A regulatory beta subunit 1)

Genes (Mus musculus)
Kcnab1  (potassium voltage-gated channel, shaker-related subfamily, beta member 1)

Genes (Homo sapiens)
KCNAB1  (potassium voltage-gated channel subfamily A regulatory beta subunit 1)


Additional Information