Bender AC, Morse RP, Scott RC, Holmes GL, Lenck-Santini PP (2012) SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. Epilepsy Behav 23(3):177–186. https://doi.org/10.1016/j.yebeh.2011.11.022
Article PubMed PubMed Central Google Scholar
Bian D, Chen YG, Sui YJ, Tian H, Liu YL, Cao R, Li CL, Li BY (2015) Effect of electroacupuncture stimulation of “Neiguan” (PC 6) on expression of alpha- and beta-subunit proteins of voltage-gated sodium channels in rats with myocardial ischemia. Zhen Ci Yan Jiu 40(1):45–49
Camfield P, Camfield C (2015) Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+). Epileptic Disord 17(2):124–133. https://doi.org/10.1684/epd.2015.0737
Casula MA, Facer P, Powell AJ, Kinghorn IJ, Plumpton C, Tate SN, Bountra C, Birch R, Anand P (2004) Expression of the sodium channel beta3 subunit in injured human sensory neurons. NeuroReport 15(10):1629–1632. https://doi.org/10.1097/01.wnr.0000134927.02776.ae
Article CAS PubMed Google Scholar
Catterall WA (2012) Voltage-gated sodium channels at 60: structure, function and pathophysiology. J Physiol 590(11):2577–2589. https://doi.org/10.1113/jphysiol.2011.224204
Article CAS PubMed PubMed Central Google Scholar
Catterall WA, Kalume F, Oakley JC (2010) NaV1.1 channels and epilepsy. J Physiol 588(Pt 11):1849–1859. https://doi.org/10.1113/jphysiol.2010.187484
Article CAS PubMed PubMed Central Google Scholar
Cheah CS, Westenbroek RE, Roden WH, Kalume F, Oakley JC, Jansen LA, Catterall WA (2013) Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels (austin) 7(6):468–472. https://doi.org/10.4161/chan.26023
Article CAS PubMed Google Scholar
Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP (2015) Electrophysiological differences between the same pore region mutation in SCN1A and SCN3A. Mol Neurobiol 51(3):1263–1270. https://doi.org/10.1007/s12035-014-8802-x
Article CAS PubMed Google Scholar
Cheng KI, Wang HC, Chuang YT, Chou CW, Tu HP, Yu YC, Chang LL, Lai CS (2014) Persistent mechanical allodynia positively correlates with an increase in activated microglia and increased P-p38 mitogen-activated protein kinase activation in streptozotocin-induced diabetic rats. Eur J Pain 18(2):162–173. https://doi.org/10.1002/j.1532-2149.2013.00356.x
Article CAS PubMed Google Scholar
Cummins TR, Aglieco F, Renganathan M, Herzog RI, Dib-Hajj SD, Waxman SG (2001) Nav1.3 sodium channels: rapid repriming and slow closed-state inactivation display quantitative differences after expression in a mammalian cell line and in spinal sensory neurons. J Neurosci 21(16):5952–5961
Article CAS PubMed PubMed Central Google Scholar
Cusdin FS, Nietlispach D, Maman J, Dale TJ, Powell AJ, Clare JJ, Jackson AP (2010) The sodium channel 3-subunit induces multiphasic gating in NaV1.3 and affects fast inactivation via distinct intracellular regions. J Biol Chem 285(43):33404–33412. https://doi.org/10.1074/jbc.M110.114058
Article CAS PubMed PubMed Central Google Scholar
Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW, Buttery J, Gold M, Richmond P, Macartney KK, Hildebrand MS, Scheffer IE, Wood N, Berkovic SF (2020) SCN1A Variants in vaccine-related febrile seizures: a prospective study. Ann Neurol 87(2):281–288. https://doi.org/10.1002/ana.25650
Article CAS PubMed Google Scholar
Escayg A, Goldin AL (2010) Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia 51(9):1650–1658. https://doi.org/10.1111/j.1528-1167.2010.02640.x
Article CAS PubMed PubMed Central Google Scholar
Grider MH, Jessu R, Glaubensklee CS (2020) Physiology, action potential. In: StatPearls. Treasure Island (FL),
Guerreiro CA (2016) Epilepsy: is there hope? Indian J Med Res 144(5):657–660. https://doi.org/10.4103/ijmr.IJMR_1051_16
Article PubMed PubMed Central Google Scholar
Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O (1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39(5):508–512. https://doi.org/10.1111/j.1528-1157.1998.tb01413.x
Article CAS PubMed Google Scholar
Hains BC, Saab CY, Waxman SG (2005) Changes in electrophysiological properties and sodium channel Nav1.3 expression in thalamic neurons after spinal cord injury. Brain 128(Pt 10):2359–2371. https://doi.org/10.1093/brain/awh623
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH (2008) Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett 433(1):65–70. https://doi.org/10.1016/j.neulet.2007.12.064
Article CAS PubMed PubMed Central Google Scholar
Horishita T, Yanagihara N, Ueno S, Okura D, Horishita R, Minami T, Ogata Y, Sudo Y, Uezono Y, Sata T, Kawasaki T (2017) Antidepressants inhibit Nav1.3, Nav1.7, and Nav1.8 neuronal voltage-gated sodium channels more potently than Nav1.2 and Nav1.6 channels expressed in Xenopus oocytes. Naunyn Schmiedebergs Arch Pharmacol 390(12):1255–1270. https://doi.org/10.1007/s00210-017-1424-x
Article CAS PubMed Google Scholar
Hu Q, Niu Q, Song H, Wei S, Wang S, Yao L, Li YP (2019) Polysaccharides from Portulaca oleracea L. regulated insulin secretion in INS-1 cells through voltage-gated Na(+) channel. Biomed Pharmacother 109:876–885. https://doi.org/10.1016/j.biopha.2018.10.113
Article CAS PubMed Google Scholar
Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza DD, Kok F, Garzon E (2020) Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. Brain Dev 42(2):211–216. https://doi.org/10.1016/j.braindev.2019.09.004
Isom LL, De Jongh KS, Catterall WA (1994) Auxiliary subunits of voltage-gated ion channels. Neuron 12(6):1183–1194. https://doi.org/10.1016/0896-6273(94)90436-7
Article CAS PubMed Google Scholar
Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ (2001) Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. Gene 264(1):113–122. https://doi.org/10.1016/s0378-1119(00)00594-1
Article CAS PubMed Google Scholar
Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA (2017) SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis 102:38–48. https://doi.org/10.1016/j.nbd.2017.02.006
Article CAS PubMed PubMed Central Google Scholar
Li HJ, Wan RP, Tang LJ, Liu SJ, Zhao QH, Gao MM, Yi YH, Liao WP, Sun XF (1849) Long YS (2015) Alteration of Scn3a expression is mediated via CpG methylation and MBD2 in mouse hippocampus during postnatal development and seizure condition. Biochim Biophys Acta 1:1–9. https://doi.org/10.1016/j.bbagrm.2014.11.004
Mantegazza M, Curia G, Biagini G, Ragsdale DS, Avoli M (2010) Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders. Lancet Neurol 9(4):413–424. https://doi.org/10.1016/S1474-4422(10)70059-4
Article CAS PubMed Google Scholar
Meisler MH, Kearney JA (2005) Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 115(8):2010–2017. https://doi.org/10.1172/JCI25466
Article CAS PubMed PubMed Central Google Scholar
Miller IO, Sotero de Menezes MA (1993) SCN1A seizure disorders. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews((R)). Seattle (WA)
Noda M, Shimizu S, Tanabe T, Takai T, Kayano T, Ikeda T, Takahashi H, Nakayama H, Kanaoka Y, Minamino N et al (1984) Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence. Nature 312(5990):121–127. https://doi.org/10.1038/312121a0
Article CAS PubMed Google Scholar
Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ (2018) Progress in understanding and treating SCN2A-mediated disorders. Trends Neurosci 41(7):442–456. https://doi.org/10.1016/j.tins.2018.03.011
Article CAS PubMed PubMed Central Google Scholar
Schaller KL, Caldwell JH (2003) Expression and distribution of voltage-gated sodium channels in the cerebellum. Cerebellum 2(1):2–9. https://doi.org/10.1080/14734220309424
Article CAS PubMed Google Scholar
Scheffer IE, Nabbout R (2019) SCN1A-related phenotypes: epilepsy and beyond. Epilepsia 60(Suppl 3):S17–S24. https://doi.org/10.1111/epi.16386
Smith RS, Walsh CA (2020) Ion channel functions in early brain development. Trends Neurosci 43(2):103–114. https://doi.org/10.1016/j.tins.2019.12.004
Article CAS PubMed PubMed Central Google Scholar
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bonnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK (2018) Sodium channel SCN3A (NaV1.3) regulation of human cerebral cortical folding and oral motor development. Neuron 99(5):905–913. https://doi.org/10.1016/j.neuron.2018.07.052
留言 (0)