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Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure

Neurological Sciences volume 31, pages 675–677 (2010)Cite this article

Abstract

Voltage-gated sodium channel genes are associated with idiopathic generalized epilepsy. Our group preciously identified a suggestive new locus on chromosome 11q22.1–23.3 in a five-generational Chinese epileptic family with generalized tonic–clonic seizure. SCN2B, SCN3B and SCN4B, which located at 11q22.1–23.3 locus, were chosen as candidate genes for this family. In the present study, genomic DNA was extracted in six affected family members. All exons of SCN2B, SCN3B and SCN4B were sequenced using direct DNA sequence analysis. The results showed that no mutation or polymorphism of coding regions of SCN2B, SCN3B and SCN4B was detected in the tested family members. Therefore, SCN2B, SCN3B and SCN4B are not major susceptibility genes contributed to our large family.

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Acknowledgments

This study was supported by grants from the National Natural Science Foundation of China (30870877); the Key Project of Chinese Ministry of Education (210182); the Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry; Natural Science Foundation Project of CQ CSTC (2008BB5075); the Scientific Research Project of Chongqing Municipal Education Commission (KJ100319) and Chongqing Municipal Health Bureau of China (2008-2-01).

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Affiliations

  1. Department of Geriatrics, The First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China

    Yang Lu

  2. Department of Neurology, The First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China

    Yang Lu, Zhiqin Xi, Zheng Xiao & Xue-Feng Wang

  3. Department of Neurobiology, Chongqing Medical University, Chongqing, 400016, China

    Weihua Yu

  4. Chongqing Key Laboratory of Neurology, The First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China

    Xiaoqin Kou

Authors
  1. Yang Lu
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  2. Weihua Yu
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  3. Zhiqin Xi
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  4. Zheng Xiao
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  5. Xiaoqin Kou
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  6. Xue-Feng Wang
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Corresponding author

Correspondence to Xue-Feng Wang.

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Y. Lu and W. Yu contributed equally to this work.

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Lu, Y., Yu, W., Xi, Z. et al. Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure. Neurol Sci 31, 675–677 (2010). https://doi.org/10.1007/s10072-010-0390-6

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  • DOI: https://doi.org/10.1007/s10072-010-0390-6

Keywords

  • Epilepsy
  • Generalized tonic–clonic seizure
  • SCN2B
  • SCN3B
  • SCN4B