Genomes and Genes
Gene Symbol: SCN3A
Description: sodium voltage-gated channel alpha subunit 3
Alias: EIEE62, FFEVF4, NAC3, Nav1.3, sodium channel protein type 3 subunit alpha, brain III voltage-gated sodium channel, sodium channel protein brain III subunit alpha, sodium channel protein type III subunit alpha, sodium channel, voltage gated, type III alpha subunit, sodium channel, voltage-gated, type III, alpha polypeptide, voltage-gated sodium channel subtype III, voltage-gated sodium channel subunit alpha Nav1.3
- Pucca M, Peigneur S, Cologna C, Cerni F, Zoccal K, Bordon K, et al. Electrophysiological characterization of the first Tityus serrulatus alpha-like toxin, Ts5: Evidence of a pro-inflammatory toxin on macrophages. Biochimie. 2015;115:8-16 pubmed publisher..This work provides useful insights for a better understanding of the involvement of VAMPs in macrophage modulation. ..
- Nickel K, Tebartz van Elst L, Domschke K, Gläser B, Stock F, Endres D, et al. Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report. BMC Psychiatry. 2018;18:248 pubmed publisher..Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A, SCN2A and SCN3A genes for autism spectrum disorder (ASD)...
- Fukuoka T, Miyoshi K, Noguchi K. De novo expression of Nav1.7 in injured putative proprioceptive afferents: Multiple tetrodotoxin-sensitive sodium channels are retained in the rat dorsal root after spinal nerve ligation. Neuroscience. 2015;284:693-706 pubmed publisher..Specifically, Nav1.7 may cause some functional changes in sensory processing in the gracile nucleus after peripheral nerve injury. ..
- Slowik D, Henderson R. Benchmarking the stability of human detergent-solubilised voltage-gated sodium channels for structural studies using eel as a reference. Biochim Biophys Acta. 2015;1848:1545-51 pubmed publisher..3, but that structural analysis on the full spectrum of VGSCs, by methods that require greater stability such as crystallisation and X-ray crystallography, will require further stabilisation of the channel. ..
- Horishita T, Yanagihara N, Ueno S, Okura D, Horishita R, Minami T, et al. The neurosteroid allopregnanolone sulfate inhibits Nav1.3 ? subunit-containing voltage-gated sodium channels, expressed in Xenopus oocytes. J Pharmacol Sci. 2018;137:93-97 pubmed publisher..These results suggest the possible importance of Nav1.3 inhibition for the analgesic mechanisms of allopregnanolone. ..
- Deng X, Wang D, Wang S, Wang H, Zhou H. Identification of key genes and pathways involved in response to pain in goat and sheep by transcriptome sequencing. Biol Res. 2018;51:25 pubmed publisher..motif chemokine ligand 27 (CCL27), glutamate receptor 2 (GRIA2), and sodium voltage-gated channel alpha subunit 3 (SCN3A), were mainly enriched in GO functions associated with N-methyl-D-aspartate (NMDA) receptor, inflammatory response,..
- Zhang H, Zou B, Du F, Xu K, Li M. Reporting sodium channel activity using calcium flux: pharmacological promiscuity of cardiac Nav1.5. Mol Pharmacol. 2015;87:207-17 pubmed publisher..4. Our evidence of a broad inhibition profile of Nav channels suggests a need to consider off-target effects on Nav channels. The site-dependent promiscuity forms a foundation to better understand Nav channels and compound interactions. ..
- Chong P, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, et al. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Seizure. 2018;60:91-93 pubmed publisher..1-Mb region of chromosome 2q24.3. We found that the deleted interval included the SCN2A and SCN3A loci...
- Smith R, Kenny C, Ganesh V, Jang A, Borges Monroy R, Partlow J, et al. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. 2018;99:905-913.e7 pubmed publisher..We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3. Pathogenic NaV1...
- Kirchhof P, Tal T, Fabritz L, Klimas J, Nesher N, Schulte J, et al. First report on an inotropic peptide activating tetrodotoxin-sensitive, "neuronal" sodium currents in the heart. Circ Heart Fail. 2015;8:79-88 pubmed publisher..6 or Nav1.3 in cellular electrophysiological recordings obtained from rodent thalamic slices. Nav1.3 (SCN3A) mRNA was detected in human and mouse heart tissue...
- Salunkhe V, Esguerra J, Ofori J, Mollet I, Braun M, Stoffel M, et al. Modulation of microRNA-375 expression alters voltage-gated Na(+) channel properties and exocytosis in insulin-secreting cells. Acta Physiol (Oxf). 2015;213:882-92 pubmed publisher..Potential targets differed among species and expression of suggested targets Scn3a and Scn3b in INS-1Â 832/13 cells was only slightly moderated by miR-375...
- Minett M, Falk S, Santana Varela S, Bogdanov Y, Nassar M, Heegaard A, et al. Pain without nociceptors? Nav1.7-independent pain mechanisms. Cell Rep. 2014;6:301-12 pubmed publisher..8-positive nociceptors. Thus, similar pain phenotypes arise through distinct cellular and molecular mechanisms. Therefore, rational analgesic drug therapy requires patient stratification in terms of mechanisms and not just phenotype. ..
- Lin X, O Malley H, Chen C, Auerbach D, Foster M, Shekhar A, et al. Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts. J Physiol. 2015;593:1389-407 pubmed publisher..before full T-tubule formation; the latter occurred concurrent with increased message abundance for the neuronal Scn3a mRNA, suggesting increased abundance of tetrodotoxin-sensitive NaV 1...
- Zhang F, Liu Y, Zhang C, Li J, Yang Z, Gong X, et al. Natural mutations change the affinity of Î¼-theraphotoxin-Hhn2a to voltage-gated sodium channels. Toxicon. 2015;93:24-30 pubmed publisher..Furthermore, the reduced potency of the four mutants probably reflects natural selection might favor and reserve the most potent bioactivity of HNTX-III which is one of the most abundant fractions of the venom. ..
- Gazina E, Leaw B, Richards K, Wimmer V, Kim T, Aumann T, et al. 'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour. Hum Mol Genet. 2015;24:1457-68 pubmed publisher..2 on neuronal excitability, seizure susceptibility and behaviour and may contribute to our understanding of NaV1.2 roles in health and diseases such as epilepsy and autism. ..
- Lim B, Hwang H, Kim H, Chae J, Choi J, Kim K, et al. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?. Epilepsy Res. 2015;109:34-9 pubmed publisher..Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and ..
- Vandael D, Ottaviani M, Legros C, Lefort C, GuÃ©rineau N, Allio A, et al. Reduced availability of voltage-gated sodium channels by depolarization or blockade by tetrodotoxin boosts burst firing and catecholamine release in mouse chromaffin cells. J Physiol. 2015;593:905-27 pubmed publisher..Thus, Nav1.3/Nav1.7 channel availability sets the AP shape, burst-firing initiation and regulates catecholamine secretion in MCCs. Nav channel inactivation becomes important during periods of high activity, mimicking stress responses. ..
- Shi D, Yuan Y, Ye D, Kang L, Wen J, Chen H. MiR-183-5p Alleviates Chronic Constriction Injury-Induced Neuropathic Pain Through Inhibition of TREK-1. Neurochem Res. 2018;43:1143-1149 pubmed publisher..Our findings suggested that miR-183-5P participated in the regulation of CCI-induced neuropathic pain through inhibiting the expression of TREK-1. ..
- Zhao P, Mao B, Cai X, Jiang J, Liu Z, Lin J, et al. 2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia. Int J Pediatr Otorhinolaryngol. 2018;109:96-100 pubmed publisher..2?Mb deletion on 2q24.2q24.3, including 19 genes (ITGB6; TBR1; SLC4A10; KCNH7 SCN3A; SCN2A et al.)...
- Yang L, Li Q, Liu X, Liu S. Roles of Voltage-Gated Tetrodotoxin-Sensitive Sodium Channels NaV1.3 and NaV1.7 in Diabetes and Painful Diabetic Neuropathy. Int J Mol Sci. 2016;17: pubmed publisher..3 and NaV1.7, which are encoded by the sodium voltage-gated channel alpha subunit 3 and 9 (Scn3A and Scn9A) genes, respectively, have been identified in both peripheral nociceptive neurons of dorsal root ..
- Hessel E, van Lith H, Wolterink Donselaar I, de Wit M, Groot Koerkamp M, Holstege F, et al. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a. Eur J Neurosci. 2016;44:2950-2957 pubmed publisher..Ifih1) contained a non-synonymous SNP comparing CSS2 and C57BL/6J, six genes (March7, Nr4a2, Gpd2, Grb14, Scn1a, Scn3a) were differentially expressed between these strains...
- Paiva A, Matavel A, Peigneur S, Cordeiro M, Tytgat J, Diniz M, et al. Differential effects of the recombinant toxin PnTx4(5-5) from the spider Phoneutria nigriventer on mammalian and insect sodium channels. Biochimie. 2016;121:326-35 pubmed publisher..3 and Nav1.6 channels. As far as we know, this is the first araneomorph toxin described which can shift the sodium channel activation to more depolarized potentials and also slows down channel inactivation. ..
- Guan G, Zhao M, Xu X, Boczek T, Mao X, Li Z, et al. Abnormal changes in voltage-gated sodium channels subtypes NaV1.1, NaV1.2, NaV1.3, NaV1.6 and CaM/CaMKII pathway in low-grade astrocytoma. Neurosci Lett. 2018;674:148-155 pubmed publisher..This study represents the first evidence of the abnormal changes in VGSCs subtypes and CaM/CaMKII pathway in human brain low-grade astrocytoma, providing new potential targets for molecular therapies of this disease. ..
- Kocmálová M, Kollarik M, Canning B, Ru F, Adam Herbstsomer R, Meeker S, et al. Control of Neurotransmission by NaV1.7 in Human, Guinea Pig, and Mouse Airway Parasympathetic Nerves. J Pharmacol Exp Ther. 2017;361:172-180 pubmed publisher..7-blocking drugs, in which there is an overactive parasympathetic drive, such as in asthma. The data also raise the potential concern of antiparasympathetic side effects for systemic NaV1.7 blockers. ..
- Onwuli D, Beltran Alvarez P. An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels. Amino Acids. 2016;48:641-651 pubmed publisher..1), SCN2A (NaV1.2), SCN3A (NaV1.3) and SCN8A (NaV1...
- Xu W, Zhang J, Wang Y, Wang L, Wang X. Changes in the expression of voltage-gated sodium channels Nav1.3, Nav1.7, Nav1.8, and Nav1.9 in rat trigeminal ganglia following chronic constriction injury. Neuroreport. 2016;27:929-34 pubmed publisher..3 and downregulation of Nav1.7, Nav1.8, and Nav1.9 messenger RNA and protein levels. Our findings suggest that VGSC may participate in the regulation of TN. ..
- Wang D, Mistry A, Kahlig K, Kearney J, Xiang J, George A. Propranolol blocks cardiac and neuronal voltage-gated sodium channels. Front Pharmacol. 2010;1:144 pubmed publisher..5 channels. Our findings establish sodium channels as targets for propranolol and may help explain some beneficial effects of the drug in treating cardiac arrhythmias, and may explain certain adverse central nervous system effects. ..
- Lin G, Lu P, Zeng T, Tang H, Chen Y, Liu S, et al. GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions. Neuropharmacology. 2017;113:480-489 pubmed publisherAbnormal expressions of sodium channel SCN1A and SCN3A genes alter neural excitability that are believed to contribute to the pathogenesis of epilepsy, a long-term risk of recurrent seizures...
- Camargos T, Bosmans F, Rego S, MourÃ£o C, Schwartz E. The Scorpion Toxin Tf2 from Tityus fasciolatus Promotes Nav1.3 Opening. PLoS ONE. 2015;10:e0128578 pubmed publisher..8) expressed in Xenopus oocytes are insensitive upon application of 1 Î¼M Tf2. Therefore, the identification of Tf2 represents a unique addition to the repertoire of animal toxins that can be used to investigate Nav channel function. ..
- Mennemeyer S, Schumacher J, Milby J, Wallace D. Costs and Effectiveness of Treating Homeless Persons with Cocaine Addiction with Alternative Contingency Management Strategies. J Ment Health Policy Econ. 2017;20:21-36 pubmed..found that the abstinent contingent housing (ACH3) treatment compared to the Non Abstinent Contingent Housing (NAC3), analogous to "Housing First", achieved better abstinence (12.1 v. 10 weeks) at higher average cost (USD 22,512 v...
- Tan A, Samad O, Dib Hajj S, Waxman S. Virus-Mediated Knockdown of Nav1.3 in Dorsal Root Ganglia of STZ-Induced Diabetic Rats Alleviates Tactile Allodynia. Mol Med. 2015;21:544-52 pubmed publisher..Taken together, these findings offer a novel gene therapy approach for addressing chronic diabetic neuropathic pain. ..
- Evans M, Maglinger G, Fletcher A, Johnson S. Benzonatate inhibition of voltage-gated sodium currents. Neuropharmacology. 2016;101:179-87 pubmed publisher..3 Î¼M, which has been reported in humans. We conclude that benzonatate has local anesthetic-like effects on voltage-gated sodium channels, including Nav1.7, which is a possible mechanism for cough suppression by the drug. ..
- Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, et al. Tumor necrosis factor-Î± enhances voltage-gated Naâº currents in primary culture of mouse cortical neurons. J Neuroinflammation. 2015;12:126 pubmed publisher..TNF-Î± increases Na(+) currents by accelerating the channel activation as well as increasing the expression of VGSCs in a mechanism dependent upon NF-ÎºB and p38 MAPK signal pathways in CNS neurons. ..
- Zhao Y, Sun Q, Zeng Z, Li Q, Zhou S, Zhou M, et al. Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells. BMC Cardiovasc Disord. 2016;16:1 pubmed publisher..study, we observed the effect of IL-2 by qRT-PCR on the transcription of ion channel genes including SCN2A, SCN3A, SCN4A, SCN5A, SCN9A, SCN10A, SCN1B, SCN2B, SCN3B, KCNN1, KCNJ5, KCNE1, KCNE2, KCNE3, KCND3, KCNQ1, KCNA5, KCNH2 ..
- Liu C, Lu X, Shen M, Xing C, Ma J, Duan Y, et al. N-Acetyl Cysteine improves the diabetic cardiac function: possible role of fibrosis inhibition. BMC Cardiovasc Disord. 2015;15:84 pubmed publisher..in each group: including DM (diabetes without NAC treatment), and 4 different NAC treatment groups, namely NAC1, NAC3, NAC5 and NAC7, with the number defining the start time point of NAC treatment...
- Luiz A, Wood J. Sodium Channels in Pain and Cancer: New Therapeutic Opportunities. Adv Pharmacol. 2016;75:153-78 pubmed publisher..In this chapter, we present a short overview of the possible role of Nav1.3, Nav1.7, Nav1.8, and Nav1.9 in human pain and the emerging and unexpected role of sodium channels in cancer pathogenesis. ..
- Tan N, Tang H, Lin G, Chen Y, Lu P, Li H, et al. Epigenetic Downregulation of Scn3a Expression by Valproate: a Possible Role in Its Anticonvulsant Activity. Mol Neurobiol. 2017;54:2831-2842 pubmed publisherUpregulation of sodium channel SCN3A expression in epileptic tissues is known to contribute to enhancing neuronal excitability and the development of epilepsy...
- Kharatmal S, Singh J, Sharma S. Voltage-Gated Sodium Channels as Therapeutic Targets for Treatment of Painful Diabetic Neuropathy. Mini Rev Med Chem. 2015;15:1134-47 pubmed
- Liu J, Wu Y. Electro-acupuncture-modulated miR-214 prevents neuronal apoptosis by targeting Bax and inhibits sodium channel Nav1.3 expression in rats after spinal cord injury. Biomed Pharmacother. 2017;89:1125-1135 pubmed publisher..These results suggest that miR-214 played an important role after SCI in the process of EA therapy, and the miR-214 could become an attractive novel therapeutic target for the treatment of SCI. ..
- Lu C, Brown G. Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit. J Mol Neurosci. 1998;10:67-70 pubmed..that this transcript represents the two isoforms (neonatal and adult) of the human brain sodium channel gene, SCN3A (GenBank accession numbers AF035685 and AF035686)...
- Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, et al. Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. Gene. 2001;264:113-22 pubmed..members of the voltage-gated sodium channel family, the type 2 alpha subunit (SCN2A) and the type 3 alpha subunit (SCN3A)...
- Weiss L, Escayg A, Kearney J, Trudeau M, MacDonald B, Mori M, et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003;8:186-94 pubmed..SNP density was 1/kb in the genomic sequence screened. We report 38 sodium channel SNPs that will be useful in future association and linkage studies. ..
- Platoshyn O, Remillard C, Fantozzi I, Sison T, Yuan J. Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. Pflugers Arch. 2005;451:380-387 pubmed publisher..Whether their expression and/or activity are heightened in the pathological state is discussed. ..
- Martin M, Tang B, Ta N, Escayg A. Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Genomics. 2007;90:225-35 pubmedThe human voltage-gated sodium channel gene cluster on chromosome 2q24 contains three paralogs, SCN1A, SCN2A, and SCN3A, which are expressed in the central nervous system...
- Haerian B, Baum L, Kwan P, Tan H, Raymond A, Mohamed Z. SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics. 2013;14:1153-66 pubmed publisher..Genotype analysis of 39 polymorphisms located in the SCN1A, SCN2A and SCN3A genes was performed on 1504 epilepsy patients from Malaysia and Hong Kong who were receiving AEDs...
- Cheah C, Westenbroek R, Roden W, Kalume F, Oakley J, Jansen L, et al. Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels (Austin). 2013;7:468-72 pubmed publisher..1 channels in DS, defines a tipping point that leads to disinhibition of neural circuits, intractable seizures, co-morbidities, and premature death in this disease. ..
- Kubat Öktem E, Mruk K, Chang J, Akin A, Kobertz W, Brown R. Mutant SOD1 protein increases Nav1.3 channel excitability. J Biol Phys. 2016;42:351-70 pubmed publisher..These findings are consistent with the view that excessive excitability of neurons is one component in the pathogenesis of this disease. ..
- Lamar T, Vanoye C, Calhoun J, Wong J, Dutton S, Jorge B, et al. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis. 2017;102:38-48 pubmed publisherMutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes...
- Whitaker W, Faull R, Dragunow M, Mee E, Emson P, Clare J. Changes in the mRNAs encoding voltage-gated sodium channel types II and III in human epileptic hippocampus. Neuroscience. 2001;106:275-85 pubmed..However, it is likely that such changes would affect the intrinsic excitability of hippocampal neurones. ..
- Horishita T, Yanagihara N, Ueno S, Okura D, Horishita R, Minami T, et al. 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. 2017;390:1255-1270 pubmed publisher..Moreover, the ?3 subunit appears important for inhibition of Nav1.3. These findings may aid better understanding of the mechanisms underlying the pain relieving effects of antidepressants. ..
- Rougier J, van Bemmelen M, Bruce M, Jespersen T, Gavillet B, Apothéloz F, et al. Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins. Am J Physiol Cell Physiol. 2005;288:C692-701 pubmed..This study shows that Nedd4-dependent ubiquitination of Na(v) channels may represent a general mechanism regulating the excitability of neurons and myocytes via modulation of channel density at the plasma membrane. ..
- Strege P, Knutson K, Eggers S, Li J, Wang F, Linden D, et al. Sodium channel NaV1.3 is important for enterochromaffin cell excitability and serotonin release. Sci Rep. 2017;7:15650 pubmed publisher..repertoire of voltage-gated sodium channels (NaV) in fluorescence-sorted mouse EC cells and found that Scn3a was highly expressed. Scn3a-encoded NaV1...
- Wu Y, Ma H, Zhang F, Zhang C, Zou X, Cao Z. Selective voltage-gated sodium channel peptide toxins from animal venom: pharmacological probes and analgesic drug development. ACS Chem Neurosci. 2017;: pubmed publisher..In this review, we summarized recent advance of peptide toxins from animal venom that selectively target Nav1.3, 1.7, 1.8, and 1.9, along with their potentials in analgesic drug discovery...
- Chen C, Lin S, Chern S, Chen Y, Tsai F, Wu P, et al. Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. Eur J Med Genet. 2010;53:217-20 pubmed publisher..8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.
- Baum L, Haerian B, Ng H, Wong V, Ng P, Lui C, et al. Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. Hum Genet. 2014;133:651-9 pubmed publisher..sodium channels, composed of one large ? subunit and two small ? subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain...
- Catterall W, Goldin A, Waxman S. International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol Rev. 2005;57:397-409 pubmed..This article presents the molecular relationships and physiological roles of these sodium channel proteins and provides comprehensive information on their molecular, genetic, physiological, and pharmacological properties. ..
- Siqueira S, Alves B, Malpartida H, Teixeira M, Siqueira J. Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia. Neuroscience. 2009;164:573-7 pubmed publisher..7 was downregulated in TN (P=0.017) and Nav1.3 was upregulated in these patients (P=0.043). We propose a physiopathological mechanism for these findings. Besides vascular compression of TN, this disease might be also a channelopathy. ..
- Malo M, Srivastava K, Andresen J, Chen X, Korenberg J, Ingram V. Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. Proc Natl Acad Sci U S A. 1994;91:2975-9 pubmed..assign this sequence as a part of a gene coding the alpha-subunit of a human brain type III sodium channel (SCN3A)...
- Chen Y, Dale T, Romanos M, Whitaker W, Xie X, Clare J. Cloning, distribution and functional analysis of the type III sodium channel from human brain. Eur J Neurosci. 2000;12:4281-9 pubmed..The distinct properties of the channel, together with its wide distribution in adult brain, suggest that in humans, type III may have important physiological roles under normal, and perhaps also pathological conditions. ..
- Shah B, Rush A, Liu S, Tyrrell L, Black J, Dib Hajj S, et al. Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface. J Neurosci. 2004;24:7387-99 pubmed..We propose that the upregulation of contactin and its colocalization with Na(v)1.3 in axotomized DRG neurons may contribute to the hyper-excitablity of the injured neurons. ..
- Thimmapaya R, Neelands T, Niforatos W, Davis Taber R, Choi W, Putman C, et al. Distribution and functional characterization of human Nav1.3 splice variants. Eur J Neurosci. 2005;22:1-9 pubmed..This study has demonstrated that all four human splice variants of the Nav1.3 channel alpha subunit are widely expressed and generate functional TTX-sensitive Na+ channels that likely modulate cellular excitability. ..
- de Greef B, Merkies I, Geerts M, Faber C, Hoeijmakers J. Efficacy, safety, and tolerability of lacosamide in patients with gain-of-function Nav1.7 mutation-related small fiber neuropathy: study protocol of a randomized controlled trial-the LENSS study. Trials. 2016;17:306 pubmed publisher..The findings may increase the knowledge on lacosamide as a potential treatment option in patients with painful neuropathies, considering the central role of Nav1.7 in pain. ClinicalTrials.gov, NCT01911975 . Registered on 13 July 2013. ..
- Rex E, Rankin M, Yang Y, Lu Q, Gerfen C, Jose P, et al. Identification of RanBP 9/10 as interacting partners for protein kinase C (PKC) gamma/delta and the D1 dopamine receptor: regulation of PKC-mediated receptor phosphorylation. Mol Pharmacol. 2010;78:69-80 pubmed publisher..These data support the idea that RanBP9 and RanBP10 may function as signaling integrators and dictate the efficient regulation of D(1) receptor signaling by PKCdelta and PKCgamma. ..
- Harms E, Stoetzer C, Stueber T, O Reilly A, Leffler A. Investigation into the role of an extracellular loop in mediating proton-evoked inhibition of voltage-gated sodium channels. Neurosci Lett. 2017;661:5-10 pubmed publisher..Given the distance of the proton-motif from the pore mouth it seems unlikely that a blocking mechanism involving direct obstruction of the pore underlies the observed proton-evoked channel inhibition. ..
- Joe I, Cho G. PDE4 Inhibition by Rolipram Promotes Neuronal Differentiation in Human Bone Marrow Mesenchymal Stem Cells. Cell Reprogram. 2016;18:224-9 pubmed publisher..expression of the neuronal-specific marker genes Nestin, Musashi, CD133, GFAP, NF-M, MAP-2, KCNH1, KCNH5, SCN3A, and CACNA1A, and decreased expression of other lineage-specific markers Adiponectin, ALP, FABP4, and MMP13...
- Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, et al. Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia. 2012;53:2128-34 pubmed publisher..was in the neonatal period in eight patients with SCN1A-involvement, in infancy in one patient with SCN2A and SCN3A, but no SCN1A involvement. Seizure activity decreased and eventually stopped at 5-20 months of age...
- Trujillano D, Bertoli Avella A, Kumar Kandaswamy K, Weiss M, Köster J, Marais A, et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017;25:176-182 pubmed publisher..timely diagnosing of genetic diseases, validation of causality of specific genetic disorders of PTPN23, KCTD3, SCN3A, PPOX, FRMPD4, and SCN1B, and setting dual diagnoses by detecting two causative variants in distinct genes in the ..
- Vanoye C, Gurnett C, Holland K, George A, Kearney J. Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis. 2014;62:313-22 pubmed publisher..Only one epilepsy-associated mutation has been identified in SCN3A encoding the NaV1.3 neuronal sodium channel...
- Kwan P, Poon W, Ng H, Kang D, Wong V, Ng P, et al. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. Pharmacogenet Genomics. 2008;18:989-98 pubmed publisher..Results of this study suggest an association between SCN2A IVS7-32A>G and AED responsiveness, without evidence of an effect on splicing or mRNA expression. ..
- Yu S, Li S, Shu H, Zhang C, He J, Fan X, et al. Upregulated expression of voltage-gated sodium channel Nav1.3 in cortical lesions of patients with focal cortical dysplasia type IIb. Neuroreport. 2012;23:407-11 pubmed publisher..3 protein and a specific cellular distribution of Nav1.3 proteins in FCDIIb lesion tissue samples, suggesting that Nav1.3 may be involved in the generation of epileptic activity in FCDIIb. ..
- Thuresson A, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, et al. Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development. Clin Genet. 2017;91:106-110 pubmed publisher..However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome. ..