Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children

Fan Wu; Xinna Ji; Mengxiao Shen; Peidi Cheng; Shuo Feng; Yanyan Gao; Wanting Liu; Jinxiao Chen; Shupin Li; Xue Zhang; Qian Chen

doi:10.1016/j.gendis.2024.101322

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Rapid Communication | Open Access

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children

Fan Wu^{^a^,^b}, Xinna Ji^{^a}, Mengxiao Shen^{^a^,^b}, Peidi Cheng^{^a}, Shuo Feng^{^a}, Yanyan Gao^{^a}, Wanting Liu^{^a}, Jinxiao Chen^{^a}, Shupin Li^{^a}, Xue Zhang^{^c}, Qian Chen^{^a}()

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

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.

Crossref Google Scholar

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.

Crossref Google Scholar

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.

Crossref Google Scholar

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.

Crossref Google Scholar

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.

Crossref Google Scholar

Genes & Diseases

Volume 12 Issue 2,
March 2025

Article number: 101322

DOI: 10.1016/j.gendis.2024.101322

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