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对速度的需求；使用高通量电生理方法研究通道病相关性癫痫

The Need for Speed; Investigating Channelopathy-Associated Epilepsy Using High Throughput Electrophysiological Approaches.

作者信息

George Alfred L, Kiskinis Evangelos

机构信息

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

出版信息

Epilepsy Curr. 2024 Oct 16;24(5):345-349. doi: 10.1177/15357597241280484. eCollection 2024 Sep-Oct.

DOI:10.1177/15357597241280484
PMID:39508013
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11536426/
Abstract

Pathogenic variants in genes encoding ion channels are frequently discovered in monogenic disorders associated with epilepsy and neurodevelopmental disorders. This review covers advances in the use of automated patch clamp recording for determining the functional consequences of epilepsy-associated ion channel variants and the use of induced pluripotent stem cell (iPSC) derived neurons for in-depth investigations of the physiological consequences of such variants. The combination of these advanced technologies was a focus of the recently completed NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.

摘要

编码离子通道的基因中的致病变异经常在与癫痫和神经发育障碍相关的单基因疾病中被发现。本综述涵盖了使用自动膜片钳记录来确定癫痫相关离子通道变异的功能后果，以及使用诱导多能干细胞（iPSC）衍生的神经元来深入研究此类变异的生理后果方面的进展。这些先进技术的结合是最近完成的由美国国立神经疾病和中风研究所资助的无墙通道病相关癫痫研究中心的一个重点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1ae/11536426/067e482ce4a6/10.1177_15357597241280484-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1ae/11536426/067e482ce4a6/10.1177_15357597241280484-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1ae/11536426/067e482ce4a6/10.1177_15357597241280484-fig1.jpg

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本文引用的文献

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Molecular and cellular context influences SCN8A variant function.分子和细胞环境影响 SCN8A 变异体的功能。
JCI Insight. 2024 May 21;9(12):e177530. doi: 10.1172/jci.insight.177530.
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Antisense oligonucleotide therapeutic approach for Timothy syndrome.针对 Timothy 综合征的反义寡核苷酸治疗方法。
Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24.
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Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.SCN2A相关疾病中扩展的临床表型谱与变异功能相关。
Brain. 2024 Aug 1;147(8):2761-2774. doi: 10.1093/brain/awae125.
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Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.SCN2A 发育性和癫痫性脑病中具有变异特异性的体外神经元网络表型和药物敏感性。
J Neurochem. 2024 Dec;168(12):3950-3961. doi: 10.1111/jnc.16103. Epub 2024 Mar 27.
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Disruption of the autism-associated gene alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons.自闭症相关基因的破坏会改变患者诱导多能干细胞来源的谷氨酸能神经元的突触发育和神经元信号传导。
Front Cell Neurosci. 2024 Jan 16;17:1239069. doi: 10.3389/fncel.2023.1239069. eCollection 2023.
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Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function Developmental and Epileptic Encephalopathy.从具有发育性和癫痫性脑病的增益和功能丧失的患者诱导多能干细胞衍生神经元中具有独特的体外表型。
J Neurosci. 2024 Feb 21;44(8):e0692232023. doi: 10.1523/JNEUROSCI.0692-23.2023.
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Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.靶向阻断 SCN3A 脑病干细胞源性神经元模型中的异常钠电流。
Brain. 2024 Apr 4;147(4):1247-1263. doi: 10.1093/brain/awad376.
8
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.癫痫相关 SCN2A（Nav1.2）变体表现出多样且复杂的功能特性。
J Gen Physiol. 2023 Oct 2;155(10). doi: 10.1085/jgp.202313375. Epub 2023 Aug 14.
9
An in silico and in vitro human neuronal network model reveals cellular mechanisms beyond Na1.1 underlying Dravet syndrome.一种基于计算机的和在体的人类神经元网络模型揭示了 Dravet 综合征相关的 Na1.1 以外的细胞机制。
Stem Cell Reports. 2023 Aug 8;18(8):1686-1700. doi: 10.1016/j.stemcr.2023.06.003. Epub 2023 Jul 6.
10
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.谷氨酸受体 N-甲基-D-天冬氨酸受体 GRIN 基因家族中错义变异的分类为获得性功能或丧失性功能。
Hum Mol Genet. 2023 Sep 16;32(19):2857-2871. doi: 10.1093/hmg/ddad104.