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遗传性癫痫中的电压门控钙通道。

Voltage-gated calcium channels in genetic epilepsies.

机构信息

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University and University Hospital Tuebingen, Tuebingen, Germany.

出版信息

J Neurochem. 2024 Dec;168(12):3853-3871. doi: 10.1111/jnc.15983. Epub 2023 Oct 11.

DOI:10.1111/jnc.15983
PMID:37822150
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11591408/
Abstract

Voltage-gated calcium channels (VGCC) are abundant in the central nervous system and serve a broad spectrum of functions, either directly in cellular excitability or indirectly to regulate Ca homeostasis. Ca ions act as one of the main connections in excitation-transcription coupling, muscle contraction and excitation-exocytosis coupling, including synaptic transmission. In recent years, many genes encoding VGCCs main α or additional auxiliary subunits have been associated with epilepsy. This review sums up the current state of knowledge on disease mechanisms and provides guidance on disease-specific therapies where applicable.

摘要

电压门控钙通道(VGCC)在中枢神经系统中大量存在,具有广泛的功能,既可以直接调节细胞兴奋性,也可以间接调节钙稳态。钙离子作为兴奋-转录偶联、肌肉收缩和兴奋-分泌偶联(包括突触传递)中的主要连接之一发挥作用。近年来,许多编码 VGCC 主要 α 亚基或其他辅助亚基的基因与癫痫有关。本综述总结了目前关于疾病机制的知识现状,并在适用的情况下为特定疾病的治疗提供了指导。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b2/11591408/9863f46997eb/JNC-168-3853-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b2/11591408/9863f46997eb/JNC-168-3853-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b2/11591408/9863f46997eb/JNC-168-3853-g003.jpg

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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
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