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

Giorgia Busolin, Sandro Malacrida, Francesca Bisulli, Pasquale Striano, Carlo Di Bonaventura, Gabriella Egeo, Elena Pasini, Vittoria Cianci, Edoardo Ferlazzo, Amedeo Bianchi, Giangennaro Coppola, Maurizio Elia, Oriano Mecarelli, Giuseppe Gobbi, Susanna Casellato, Marco Marchini, Simona Binelli, Elena Freri, Tiziana Granata, Annio PosarAntonia Parmeggiani, Piernanda Vigliano, Clementina Boniver, Umberto Aguglia, Salvatore Striano, Paolo Tinuper, A. Teresa Giallonardo, Roberto Michelucci, Carlo Nobile

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)110-116
Number of pages7
JournalEpilepsy Research
Volume94
Issue number1-2
DOIs
Publication statusPublished - Mar 2011

Fingerprint

Temporal Lobe Epilepsy
Haplotypes
Genes
Single Nucleotide Polymorphism
Odds Ratio
Confidence Intervals
Partial Epilepsy
Gene Frequency
Logistic Models
Genotype
Regression Analysis

Keywords

  • Case-control study
  • Haplotype analysis
  • KCNAB1
  • Lateral temporal epilepsy
  • SNPs

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy. / Busolin, Giorgia; Malacrida, Sandro; Bisulli, Francesca; Striano, Pasquale; Di Bonaventura, Carlo; Egeo, Gabriella; Pasini, Elena; Cianci, Vittoria; Ferlazzo, Edoardo; Bianchi, Amedeo; Coppola, Giangennaro; Elia, Maurizio; Mecarelli, Oriano; Gobbi, Giuseppe; Casellato, Susanna; Marchini, Marco; Binelli, Simona; Freri, Elena; Granata, Tiziana; Posar, Annio; Parmeggiani, Antonia; Vigliano, Piernanda; Boniver, Clementina; Aguglia, Umberto; Striano, Salvatore; Tinuper, Paolo; Giallonardo, A. Teresa; Michelucci, Roberto; Nobile, Carlo.

In: Epilepsy Research, Vol. 94, No. 1-2, 03.2011, p. 110-116.

Research output: Contribution to journalArticle

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 2011, 'Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy', Epilepsy Research, vol. 94, no. 1-2, pp. 110-116. https://doi.org/10.1016/j.eplepsyres.2011.01.010
Busolin, Giorgia ; Malacrida, Sandro ; Bisulli, Francesca ; Striano, Pasquale ; Di Bonaventura, Carlo ; Egeo, Gabriella ; Pasini, Elena ; Cianci, Vittoria ; Ferlazzo, Edoardo ; Bianchi, Amedeo ; Coppola, Giangennaro ; Elia, Maurizio ; Mecarelli, Oriano ; Gobbi, Giuseppe ; Casellato, Susanna ; Marchini, Marco ; Binelli, Simona ; Freri, Elena ; Granata, Tiziana ; Posar, Annio ; Parmeggiani, Antonia ; Vigliano, Piernanda ; Boniver, Clementina ; Aguglia, Umberto ; Striano, Salvatore ; Tinuper, Paolo ; Giallonardo, A. Teresa ; Michelucci, Roberto ; Nobile, Carlo. / Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy. In: Epilepsy Research. 2011 ; Vol. 94, No. 1-2. pp. 110-116.
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AU - Di Bonaventura, Carlo

AU - Egeo, Gabriella

AU - Pasini, Elena

AU - Cianci, Vittoria

AU - Ferlazzo, Edoardo

AU - Bianchi, Amedeo

AU - Coppola, Giangennaro

AU - Elia, Maurizio

AU - Mecarelli, Oriano

AU - Gobbi, Giuseppe

AU - Casellato, Susanna

AU - Marchini, Marco

AU - Binelli, Simona

AU - Freri, Elena

AU - Granata, Tiziana

AU - Posar, Annio

AU - Parmeggiani, Antonia

AU - Vigliano, Piernanda

AU - Boniver, Clementina

AU - Aguglia, Umberto

AU - Striano, Salvatore

AU - Tinuper, Paolo

AU - Giallonardo, A. Teresa

AU - Michelucci, Roberto

AU - Nobile, Carlo

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