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Editorial: Pathogenic potassium channel variants in neurological disorders: from functional analysis to personalized pharmacological approaches.

作者信息

Servettini Ilenio, Guglielmi Luca, Sforna Luigi, Catacuzzeno Luigi

机构信息

Department of Medicine and Health Science "V. Tiberio, " University of Molise, Campobasso, Italy.

MRC Laboratory of Molecular Biology (LMB), Cambridge, United Kingdom.

出版信息

Front Cell Neurosci. 2025 Jul 30;19:1614320. doi: 10.3389/fncel.2025.1614320. eCollection 2025.

DOI:10.3389/fncel.2025.1614320
PMID:40810116
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12343496/
Abstract
摘要

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本文引用的文献

1
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.KCNA3基因的新生变异导致发育性和癫痫性脑病。
Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28.
2
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.一种新型 KCNC1 功能获得性变异导致发育性和癫痫性脑病：氟西汀的“精准医学”方法。
Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2.
3
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.KCNT2 相关疾病：表型、功能和药理学特性。
Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22.
4
Human de novo mutations underlie epilepsy and intellectual disability.人类新生突变是癫痫和智力障碍的基础。
J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18.
5
4-Aminopyridine is a promising treatment option for patients with gain-of-function -encephalopathy.4-氨基吡啶是治疗功能获得性脑病患者的一种有前途的治疗选择。
Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1.
6
Potassium channels and autism spectrum disorder: An overview.钾通道与自闭症谱系障碍：概述。
Int J Dev Neurosci. 2021 Oct;81(6):479-491. doi: 10.1002/jdn.10123. Epub 2021 Jun 22.
7
Ion Channels Involvement in Neurodevelopmental Disorders.离子通道与神经发育障碍
Neuroscience. 2020 Aug 1;440:337-359. doi: 10.1016/j.neuroscience.2020.05.032. Epub 2020 May 28.
8
Genetic potassium channel-associated epilepsies: Clinical review of the K family.遗传性钾离子通道相关性癫痫：K 家族的临床综述。
Eur J Paediatr Neurol. 2020 Jan;24:105-116. doi: 10.1016/j.ejpn.2019.12.002. Epub 2019 Dec 14.
9
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.扩展 KCNB1 变异在发育性和癫痫性脑病中的遗传和表型相关性：27 例新病例及文献综述。
Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4.
10
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.自闭症谱系障碍和癫痫患儿星形胶质细胞Kir4.1通道的功能获得性缺陷
Sci Rep. 2016 Sep 28;6:34325. doi: 10.1038/srep34325.