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Rapid Communication | Open Access

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children

Fan Wua,bXinna JiaMengxiao Shena,bPeidi ChengaShuo FengaYanyan GaoaWanting LiuaJinxiao ChenaShupin LiaXue ZhangcQian Chena( )
Department of Neurology, Children’s Hospital Capital Institute of Pediatrics, Beijing 100020, China
Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Peer review under responsibility of Chongqing Medical University.

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References

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Sanchez-Conde FG, Jimenez-Vazquez EN, Auerbach DS, Jones DK. The ERG1 K+ channel and its role in neuronal health and disease. Front Mol Neurosci. 2022;15:890368.

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Atalar F, Acuner TT, Cine N, et al. Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study. Behav Brain Funct. 2010;6:27.

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Strauss KA, Markx S, Georgi B, et al. A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Hum Mol Genet. 2014;23(23):6395–6406.

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Takata A, Miyake N, Tsurusaki Y, et al. Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder. Cell Rep. 2018;22(3):734–747.

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Xiao K, Sun Z, Jin X, et al. ERG3 potassium channel-mediated suppression of neuronal intrinsic excitability and prevention of seizure generation in mice. J Physiol. 2018;596(19):4729–4752.

Genes & Diseases
Article number: 101322
Cite this article:
Wu F, Ji X, Shen M, et al. Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children. Genes & Diseases, 2025, 12(2): 101322. https://doi.org/10.1016/j.gendis.2024.101322

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Received: 22 January 2024
Published: 09 May 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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