文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

Nav1.1 通道与癫痫。

NaV1.1 channels and epilepsy.

机构信息

University of Washington, Department of Pharmacology, SJ-30, Seattle, WA 98195-7280, USA.

出版信息

J Physiol. 2010 Jun 1;588(Pt 11):1849-59. doi: 10.1113/jphysiol.2010.187484. Epub 2010 Mar 1.


DOI:10.1113/jphysiol.2010.187484
PMID:20194124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2901973/
Abstract

Voltage-gated sodium channels initiate action potentials in brain neurons, and sodium channel blockers are used in therapy of epilepsy. Mutations in sodium channels are responsible for genetic epilepsy syndromes with a wide range of severity, and the NaV1.1 channel encoded by the SCN1A gene is the most frequent target of mutations. Complete loss-of-function mutations in NaV1.1 cause severe myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome), which includes severe, intractable epilepsy and comorbidities of ataxia and cognitive impairment. Mice with loss-of-function mutations in NaV1.1 channels have severely impaired sodium currents and action potential firing in hippocampal GABAergic inhibitory neurons without detectable effect on the excitatory pyramidal neurons, which would cause hyperexcitability and contribute to seizures in SMEI. Similarly, the sodium currents and action potential firing are also impaired in the GABAergic Purkinje neurons of the cerebellum, which is likely to contribute to ataxia. The imbalance between excitatory and inhibitory transmission in these mice can be partially corrected by compensatory loss-of-function mutations of NaV1.6 channels, and thermally induced seizures in these mice can be prevented by drug combinations that enhance GABAergic neurotransmission. Generalized epilepsy with febrile seizures plus (GEFS+) is caused by missense mutations in NaV1.1 channels, which have variable biophysical effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. Familial febrile seizures is caused by mild loss-of-function mutations in NaV1.1 channels; mutations in these channels are implicated in febrile seizures associated with vaccination; and impaired alternative splicing of the mRNA encoding these channels may also predispose some children to febrile seizures. We propose a unified loss-of-function hypothesis for the spectrum of epilepsy syndromes caused by genetic changes in NaV1.1 channels, in which mild impairment predisposes to febrile seizures, intermediate impairment leads to GEFS+ epilepsy, and severe or complete loss of function leads to the intractable seizures and comorbidities of SMEI.

摘要

电压门控钠离子通道在脑神经元中引发动作电位,钠离子通道阻滞剂被用于癫痫治疗。钠离子通道突变是多种严重程度遗传癫痫综合征的原因,由 SCN1A 基因编码的 NaV1.1 通道是突变的最常见靶点。NaV1.1 完全失活突变导致严重婴儿肌阵挛性癫痫(SMEI 或 Dravet 综合征),包括严重、难治性癫痫和共济失调及认知障碍等共病。NaV1.1 通道功能丧失突变的小鼠在海马 GABA 能抑制性神经元中钠离子电流和动作电位放电严重受损,而对兴奋性锥体神经元无明显影响,这将导致 SMEI 中的过度兴奋和癫痫发作。同样,小脑 GABA 能浦肯野神经元中的钠离子电流和动作电位放电也受损,这可能导致共济失调。这些小鼠中兴奋性和抑制性传递的不平衡可以通过 NaV1.6 通道的代偿性功能丧失突变部分纠正,并且可以通过增强 GABA 能神经传递的药物组合来预防这些小鼠的热诱导性癫痫发作。热性惊厥附加综合征(GEFS+)是由 NaV1.1 通道的错义突变引起的,这些突变对非神经元细胞表达的钠离子通道具有不同的生物物理影响,但在小鼠中表达时可能主要导致功能丧失。家族性热性惊厥是由 NaV1.1 通道的轻度功能丧失突变引起的;这些通道的突变与与疫苗接种相关的热性惊厥有关;这些通道编码 mRNA 的可变剪接也可能使一些儿童易发生热性惊厥。我们提出了一个统一的功能丧失假说,用于解释由 NaV1.1 通道遗传变化引起的癫痫综合征谱,其中轻度损害易发生热性惊厥,中度损害导致 GEFS+癫痫,严重或完全丧失功能导致难治性癫痫和 SMEI 的共病。

相似文献

[1]
NaV1.1 channels and epilepsy.

J Physiol. 2010-3-1

[2]
Sodium Channel Mutations and Epilepsy

2012

[3]
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

J Neurosci. 2003-12-10

[4]
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

J Physiol. 2005-12-1

[5]
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

Neurobiol Dis. 2010-12-13

[6]
Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Epilepsia. 2010-9

[7]
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.

J Gen Physiol. 2006-1

[8]
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Neurology. 2004-7-27

[9]
Insights into pathophysiology and therapy from a mouse model of Dravet syndrome.

Epilepsia. 2011-4

[10]
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Neurology. 2003-9-23

引用本文的文献

[1]
Role of hippocampus in epileptogenesis: new insights in the cross-talks between the underlying mechanisms.

Acta Neurol Belg. 2025-8-9

[2]
Engineering a human-based translational activator for targeted protein expression restoration.

bioRxiv. 2025-7-9

[3]
Pharmacogenetics of anti-seizure medications in Arab countries: a comprehensive review.

Future Sci OA. 2025-12

[4]
Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures.

Sci Rep. 2025-7-10

[5]
Emerging Insights into the Pathogenic Mechanisms of Dravet Syndrome.

Neurochem Res. 2025-6-26

[6]
Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy.

Acta Epileptol. 2023-6-28

[7]
Mitochondrial respiration defects in lymphoblast cell lines from patients with Dravet syndrome.

Epilepsia. 2025-7

[8]
Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.

Transl Psychiatry. 2025-3-17

[9]
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Front Genet. 2025-1-21

[10]
In vitro human ion channel assays predictive of drug-induced seizure.

Toxicol Sci. 2025-2-1

本文引用的文献

[1]
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.

J Biol Chem. 2010-1-25

[2]
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.

Neuroscience. 2009-12-17

[3]
Lack of replication of association between scn1a SNP and febrile seizures.

Neurology. 2009-12-1

[4]
A functional null mutation of SCN1B in a patient with Dravet syndrome.

J Neurosci. 2009-8-26

[5]
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

Neurobiol Dis. 2009-7

[6]
A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

Hum Mutat. 2009-7

[7]
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Epilepsia. 2009-3-12

[8]
Cation-chloride cotransporters and neuronal function.

Neuron. 2009-3-26

[9]
Preclinical assessment of proconvulsant drug activity and its relevance for predicting adverse events in humans.

Eur J Pharmacol. 2009-5-21

[10]
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

Neurology. 2009-3-17

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索