电压门控钠离子通道与相关癫痫研究

doi:10.3969/j.issn.2097-0005.2021.10.015

摘要/Abstract

摘要：

癫痫是神经系统常见病，离子通道是各种无机离子跨膜被动转运的通路，离子通道在癫痫的阵发性异常放电过程中发挥了重要作用。离子通道突变是常见癫痫的罕见致病原因，也是罕见的单基因特发性癫痫的常见致病原因。本文对钠离子通道基因与相关性癫痫的研究进行综述。

关键词: 癫痫, 电压门控钠离子通道, 基因

Abstract:

Epilepsy is a common disease of the nervous system， and ion channels are the pathway of passive transport of various inorganic ions across the membrane. Ion channels play an important role in the paroxysmal abnormal discharge of epilepsy. Ion channel mutation is not only a rare cause of common epilepsy， but also a common cause of rare monogenic idiopathic epilepsy. This article reviews the research on sodium channel gene and related epilepsy.

Key words: epilepsy, NAV channel, gene

中图分类号:

R742.1

王娜, 张敬军. 电压门控钠离子通道与相关癫痫研究[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(10): 792-796.

Na Wang, Jingjun Zhang. Research on voltage-gated sodium channels and related epilepsy[J]. Journal of Shandong First Medical Unversity & Shandong Academy of Medical Sciences, 2021, 42(10): 792-796.

参考文献 58

1	Thijs RD，Surges R，Brien TJ，et al. Epilepsy in adults［J］. Lancet， 2019，393（10172）：689.
2	Armijo JA，Valdizán EM，De CI，et al. Advances in the physiopathology of the epileptogenesis： Molecular aspects［J］.Rev Neurol （Barc）， 2002，34（5）：409.
3	Ahern CA，Payandeh J， Bosmans F，et al. The hitchhiker's guide to the voltage-gated sodium channel galaxy［J］. Gen Physiol，2016，147（1）：1.
4	Catterall WA，Goldin AL， Waxman SG. International Union of Pharmacology. XLVII. nomenclature and structure-function relationships of voltage-gated sodium channels［J］. Pharmacol Rev，2005，57（4）：397.
5	Inuzuka LM， Macedo-Souza LI， Della-Ripa B， et al. Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants： two new cases and review of the literature［J］. Brain Dev， 2020，42（2）：211.
6	Catterall WA，Kalume F，Oakley JC. NaV1.1 channels and epilepsy［J］. Physiol，2010，588（Pt 11）：1849.
7	O'Malley HA，Isom LL. Sodium channel beta subunits：emerging targets in channelopathies［J］. Annu Rev Physiol，2015，77：481.
8	Deng H， Xiu X， Song Z. The molecular biology of genetic-based epilepsies［J］. Mol Neurobiol，2014，49（1）：352.
9	Kaplan DI，Isom LL，Petrou S. Role of sodium channels in epilepsy［J］. Cold Spring Harb Perspect，2016，6（6）：1.
10	Barker BS，Young GT，Soubrane CH，et al. Ion channels［M］. London：Elsevier Academic Press, 2017：11.
11	Malo MS，Blanchard BJ， Andresen JM，et al. Localization of a putative human brain sodium channel gene （SCN1A） to chromosome band 2q24［J］. Cytogenet Genome Res，1994，67（3）：178.
12	Mulley JC，Scheffer IE， Petrou S，et al. SCN1A mutations and epilepsy［J］. Human Mutation，2005，25（6）：535.
13	Guerrini R. Dravet syndrome：The main issues［J］. European Journal of Paediatric Neurology，2012，16（Suppl 1）：S1.
14	Yamakawa K. Molecular and cellular basis： Insights from experimental models of Dravet syndrome［J］. Epilepsia， 2011，52（）：70.
15	Colasante G， Lignani G， Brusco S， et al. dCas9-based scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in dravet syndrome mice［J］. Molecular Therapy， 2020，28（1）：1.
16	Carvill GL，Engel KL，Ramamurthy A，et al. Aberrant inclusion of a poison exon causes dravet syndrome and related SCN1A-associated genetic epilepsies［J］. Am J Hum Genet，2018，103（6）：1022.
17	Catterall WA. Sodium channels， inherited epilepsy， and antiepileptic drugs［J］. Annu Rev Pharmacol Toxicol，2014，54：317.
18	Syrbe S， Zhorov BS， Bertsche A， et al. Phenotypic variability from benign infantile epilepsy to ohtahara syndrome associated with a novel mutation in SCN2A［J］.Mol Syndromol，2016，7（4）：182.
19	Sanders SJ，Campbell AJ，Cottrell JR，et al. Progress in understanding and treating SCN2A-mediated disorders［J］. Trends Neurosci，2018，41（7）：442.
20	Howell KB， McMahon JM， Carvill GL，et al. SCN2A encephalopathy： A major cause of epilepsy of infancy with migrating focal seizures［J］. Neurology，2015，85（11）：958.
21	Yamakawa K. Mutations of voltage-gated sodium channel genes SCN1A and SCN2A in epilepsy， intellectual disability， and autism［M］. Amsterdam： Elsevier Inc，2016：233.
22	Ben-Shalom R，Keeshen CM，Berrios KN，et al. Opposing effects on NaV1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures［J］. Biol Psychiatry，2017，82（3）：224.
23	Mason ER， Wu F， Patel RR， et al. Resurgent and gating pore currents induced by De Novo SCN2A epilepsy mutations［J］. ENEURO，2019，6（5）：141.
24	Whitaker WRJ，Clare JJ，Powell AJ，et al. Distribution of voltage-gated sodium channel-subunit and-subunit mRNAs in human hippocampal formation，cortex，and cerebellum［J］. Comp Neurol，2000，422（1）：123.
25	Felts PA，Yokoyama S，Dib-Hajj S，et al. Sodium channel α-subunit mRNAs Ⅰ， Ⅱ， Ⅲ， NaG，Na6 and hNE （PN1）：Different expression patterns in developing rat nervous system［J］. Mol Brain Res，1997，45（1）：71.
26	Holland KD，Kearney JA，Glauser TA，et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy［J］. Neurosci Lett，2008，433（1）：65.
27	Zaman T， Helbig I， Božović IB， et al. Mutations in SCN3A cause early infantile epileptic encephalopathy［J］. Ann Neurol，2018，83（4）：703.
28	Cheah CS，Westenbroek RE，Roden WH， et al. Correlations in timing of sodium channel expression，epilepsy，and sudden death in Dravet syndrome［J］. Channels，2013，7（6）：468.
29	Estacion M，Gasser A，Dib-Hajj SD，et al. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons［J］. Exp Neurol，2010，224（2）：362.
30	Sun G， Werkman TR， Battefeld A，et al. Carbamazepine and topiramate modulation of transient and persistent sodium currents studied in HEK293 cells expressing the Nav 1.3 subunit［J］. Epilepsia，2007，48（4）：774.
31	Lamar T，Vanoye CG，Calhoun J，et al. SCN3A deficiency associated with increased seizure susceptibility［J］. Neurobiol Dis，2017，102：38.
32	Zaman T，Helbig I，Bozovic IB，et al. Mutations in cause early infantile epileptic encephalopathy［J］. Ann Neurol，2018，83（4）：703.
33	Miyatake S，Kato M，Sawaishi Y，et al. Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria［J］. Ann Neurol，2018，84（1）：159.
34	Trujillano D，Bertoli-Avella AM，Kumar Kandaswamy K，et al. Clinical exome sequencing：Results from 2819 samples reflecting 1000 families［J］. Eur J Hum Genet，2017，25（2）：176.
35	Smith RS，Kenny CJ，Ganesh V，et al. Sodium channel SCN3A （Na（V）1.3） regulation of human cerebral cortical folding and oral motor development［J］. Neuron，2018，99（5）：905.
36	Inuzuka LM，Macedo-Souza LI，Della-Ripa B，et al. Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants：Two new cases and review of the literature［J］. Brain Dev，2019，42（2）：211.
37	Tzoumaka E，Tischler AC，Sangameswaran L，et al. Differential distribution of the tetrodotoxin-sensitive rPN4/NaCh6/Scn8a sodium channel in the nervous system［J］.Neurosci Res，2000，60（1）：37.
38	Lopez-Santiago LF，Yuan Y，Wagnon JL，et al. Neuro-nal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy［J］. Proc Natl Acad Sci USA，2017，114（9）：2383.
39	Apale LA，Paul KN，Sawyer NT，et al. Dysfunction of the scn8 avoltage-gated sodium channel alters sleep architecture，reduces diurnal corticosterone levels，and enhances spatial memory［J］. J Biol Chem，2010，285（22）：16553.
40	Johannesen KM， Gardella E， Encinas AC，et al. The spectrum of intermediate SCN8A-related epilepsy［J］. Epilepsia，2019，60（5）：830.
41	Veeramah KR，O’Brien JE，Meisler MH，et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP ［J］.American Journal of Human Genetics，2012，90（3）：502.
42	Sun W，Wagnon JL，Mahaffey CL，et al. Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice［J］. Physiol，2013，591（1）：241.
43	Makinson CD，Tanaka BS，Sorokin JM，et al. Regulation of thalamic and cortical network synchrony by Scn8a［J］. Neuron，2017，93（5）：1165.
44	Yang C， Hua Y， Zhang W，et al. Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene：Report of two cases［J］. Neurol Sci，2018，39（6）：1113.
45	Cummins TR，Howe JR，Waxman SG. Slow closed-state inactivation：a novel mechanism underlying ramp currents in cells expressing the hNE/PN1sodium chan-nel ［J］. J Neurosci，1998，18（23）：9607.
46	Rush AM，Dib-Hajj SD，Liu SJ，et al. A single sodium channel mutation produces hyper-or hypoexcit ability in different types of neurons［J］. Proc Natl Acad Scius A，2006，103（21）：8245.
47	Emery EC，Lui ZAP，Word JN. Nav1.7 and other volt-age-gated sodium　channels as drug targets for pain Relief ［J］.Expert Opin Ther Targets，2016，20（8）：975.
48	Zhang T，Chen M，Zhu A，et al. Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family［J］. Neurol Sci，2020，41（7）：1913.
49	Cen Z，Lou Y，Guo Y，et al. Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus［J］. Seizure，2017，50（6）：186.
50	Wallace RH， Wang DW， Singh R，et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na⁺-channel sz1 subunit gene SCN1B［J］. Nat Genet，1998，19（4）：366.
51	Patino GA， Claes LR， Lopez-Santiago LF，et al. A functional null mutation of SCN1B in a patient with Dravet syndrome［J］. Neurosci，2009，29（34）：10764.
52	Chen C，Westenbroek RE，Xu X，et al.Mice lacking sodium channel beta1 subunits display defects in neuronal excitability，sodium channel expression，and nodal architecture［J］. Neurosci，2004，24（16）：4030.
53	Ogiwara I， Nakayama T， Yamagata T，et al. A homozygous mutation of voltage-gated sodium channel beta（I） gene SCN1B in a patient with Dravet syndrome［J］. Epilepsia，2012，53（12）：e200.
54	Gataullina S，Dulac O. From genotype to phenotype in Dravet disease［J］. Seizure，2017，44：58.
55	Fendri-Kriaa N，Kammoun F，Salem IH，et al. New mutation c.374C > T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures［J］. Eur J Neurol，2011，18（5）：695.
56	Wallace RH，Wang DW，Singh R，et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel sz1 subunit gene SCN1B［J］. Nat Genet，1998，19（4）：366.
57	Scheffer IE，Harkin LA，Grinton BE，et al.Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations［J］. Brain，2007，130（Pt 1）：100.
58	Patino GA，Brackenbury WJ，Bao Y，et al. Voltage-gated Na⁺channel beta1B： A secreted cell adhesion molecule involved in human epilepsy［J］. Neurosci，2011，31（41）：14577.

[1]	戚孟琪, 吕玉芹, 徐雯, 张敬军. 腺苷与癫痫发病机制研究[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(9): 713-716.
[2]	高敏, 李振义, 吴月鹏, 张敬军. 不同脑叶癫痫发作类型的差异研究[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(7): 521-524.
[3]	吕玉芹, 高蕾, 徐雯, 戚孟琪, 张敬军. 颞叶癫痫差异发作频率相关生物通路及蛋白-蛋白相互作用网络分析[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(7): 508-515.
[4]	郝瑞, 许双双, 高敏, 王燕华, 吕玉芹, 王娜, 张敬军. 家族聚集性与散发性LAA脑梗死患者CYP2C19及GPⅡb/Ⅲa基因表达差异研究[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(5): 385-389.
[5]	翟晓茜, 吴开祥, 张树鹏. Xp11.2易位/TFE3基因融合相关性肾癌3例临床病理学分析[J]. betway必威登陆网址（betway.com ）学报, 2021, 42(3): 217-220.