SCN8A

Summary

Gene Symbol: SCN8A
Description: sodium voltage-gated channel alpha subunit 8
Alias: BFIS5, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4, sodium channel protein type 8 subunit alpha, hNa6/Scn8a voltage-gated sodium channel, sodium channel, voltage gated, type VIII, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.6, voltage-gated sodium channel type VIII alpha protein
Species: human
Products:     SCN8A

Top Publications

  1. Wittmack E, Rush A, Hudmon A, Waxman S, Dib Hajj S. Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase. J Neurosci. 2005;25:6621-30 pubmed
    ..6 current density. This is the first demonstration of MAPK phosphorylation and modulation of a voltage-gated sodium channel, and this modulation may represent an additional role for MAPK in regulating the neuronal response to injury. ..
  2. Shavkunov A, Panova N, Prasai A, Veselenak R, Bourne N, Stoilova McPhie S, et al. Bioluminescence methodology for the detection of protein-protein interactions within the voltage-gated sodium channel macromolecular complex. Assay Drug Dev Technol. 2012;10:148-60 pubmed publisher
    ..We envision the methodology presented here as a new valuable tool to allow functional evaluations of protein-channel complexes toward probe development and drug discovery targeting ion channels implicated in human disorders...
  3. Veeramah K, O Brien J, Meisler M, Cheng X, Dib Hajj S, Waxman S, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet. 2012;90:502-10 pubmed publisher
    ..5302A>G [p.Asn1768Asp]) in the voltage-gated sodium-channel gene SCN8A in the proband. This mutation alters an evolutionarily conserved residue in Nav1...
  4. Shavkunov A, Wildburger N, Nenov M, James T, Buzhdygan T, Panova Elektronova N, et al. The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3). J Biol Chem. 2013;288:19370-85 pubmed publisher
  5. Estacion M, O Brien J, Conravey A, Hammer M, Waxman S, Dib Hajj S, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 2014;69:117-23 pubmed publisher
    ..The heterozygous mutation c. 2003C>T in SCN8A, the gene encoding sodium channel Nav1.6, was detected in the patient but was not present in either parent...
  6. Ohba C, Kato M, Takahashi S, Lerman Sagie T, Lev D, Terashima H, et al. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014;55:994-1000 pubmed publisher
    De novo SCN8A mutations have been reported in patients with epileptic encephalopathy...
  7. Chaubey S, Thueson S, Ponnalagu D, Alam M, Gheorghe C, AGHAI Z, et al. Early gestational mesenchymal stem cell secretome attenuates experimental bronchopulmonary dysplasia in part via exosome-associated factor TSG-6. Stem Cell Res Ther. 2018;9:173 pubmed publisher
    ..oxygen) and were given intraperitoneal injections of MSC-CM or MSC-CM EXO fractions at postnatal (PN) day 2 and PN4. They were then returned to room air until PN14 (in a mouse model of severe BPD)...
  8. Alshammari M, Alshammari T, Laezza F. Improved Methods for Fluorescence Microscopy Detection of Macromolecules at the Axon Initial Segment. Front Cell Neurosci. 2016;10:5 pubmed publisher
  9. Hsu W, Wildburger N, Haidacher S, Nenov M, Folorunso O, Singh A, et al. PPARgamma agonists rescue increased phosphorylation of FGF14 at S226 in the Tg2576 mouse model of Alzheimer's disease. Exp Neurol. 2017;295:1-17 pubmed publisher
    ..of mass spectrometry and biochemistry data revealed a highly interconnected network encompassing PPAR?, FGF14, SCN8A (Nav 1.6), and the kinases GSK-3 ?, casein kinase 2?, and ERK1/2...

More Information

Publications127 found, 100 shown here

  1. Brasileiro A, Garcia L, de Carvalho da Silva S, Rocha L, Pedrosa A, Vieira A, et al. Effects of diabetes mellitus on myenteric neuronal density and sodium channel expression in the rat ileum. Brain Res. 2019;1708:1-9 pubmed publisher
    ..7. Our data support the view that chronic DM leads to a reduction of excitatory cholinergic fibers and neuronal density. However, changes in sodium channel expression pattern, which could cause neuronal dysfunction, were not detected. ..
  2. Ninomiya I, Okamoto K, Tsukada T, Saito H, Fushida S, Ikeda H, et al. Thoracoscopic radical esophagectomy and laparoscopic transhiatal lymph node dissection for superficial esophageal cancer associated with lymph node metastases in the dorsal area of the thoracic aorta. Surg Case Rep. 2015;1:25 pubmed publisher
    ..classification of esophageal cancer was MtLt, 47 mm, 0-IIa + IIb, pT1a-MM, ie(+), INF-b, ly3, v0, pN4(4a), pIM1, M0, and pstage IVa...
  3. Perucca P, Perucca E. Identifying mutations in epilepsy genes: Impact on treatment selection. Epilepsy Res. 2019;152:18-30 pubmed publisher
    ..g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations)...
  4. Borges Aguiar A, Schauffer L, de Kloet E, Schenberg L. Daily maternal separations during stress hyporesponsive period decrease the thresholds of panic-like behaviors to electrical stimulation of the dorsal periaqueductal gray of the adult rat. Behav Brain Res. 2018;344:132-144 pubmed publisher
    ..3-h daily maternal separations along postnatal (PN) days of either the 'stress hyporesponsive period' (SHRP) from PN4 to PN14 (MS11) or throughout lactation from PN2 to PN21 (MS20)...
  5. Palladino G, Loizzo S, Fortuna A, Canterini S, Palombi F, Erickson R, et al. Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin. Orphanet J Rare Dis. 2015;10:133 pubmed publisher
    ..The first injection was given at PN4 and was followed by a second one at PN7 and thereafter by weekly injections up to PN49...
  6. Shao H, Yang Y, Mi Z, Zhu G, Qi A, Ji W, et al. Anticonvulsant effect of Rhynchophylline involved in the inhibition of persistent sodium current and NMDA receptor current in the pilocarpine rat model of temporal lobe epilepsy. Neuroscience. 2016;337:355-369 pubmed publisher
    ..6 and NR2B protein expression. In conclusion, our results identified RIN as an anticonvulsant agent that inhibited ictal discharge via INap and NMDA receptor current inhibition. ..
  7. Wan X, Peng L, Ma J, Chen G, Li Y. Subgroup Economic Evaluation of Radiotherapy for Breast Cancer After Mastectomy. Clin Ther. 2015;37:2515-2526.e5 pubmed publisher
    ..patients with pN1-3, patients with pN1-3 who received systemic therapy, and patients with >4 positive nodes (pN4+), respectively...
  8. Lin Y, Fu Y, Winston J, Radhakrishnan R, Sarna S, Huang L, et al. Pathogenesis of abdominal pain in bowel obstruction: role of mechanical stress-induced upregulation of nerve growth factor in gut smooth muscle cells. Pain. 2017;158:583-592 pubmed publisher
    ..In conclusion, mechanical stress-induced upregulation of NGF in colon SMC underlies the visceral hypersensitivity in BO through increased gene expression and activity of tetrodotoxin-resistant Na channels in sensory neurons. ..
  9. Liu J, Tong L, Song S, Niu Y, Li J, Wu X, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11:48 pubmed publisher
    ..Other novel mutations detected in unclassified epilepsy patients involve the SCN8A, CACNA1A, GABRB3, GABRA1, IQSEC2, TSC1, VRK2, ATP1A2, PCDH19, SLC9A6 and CHD2 genes...
  10. Du Y, Zhang J, Xi Y, Wu G, Han K, Huang X, et al. ?1-Adrenergic blocker bisoprolol reverses down-regulated ion channels in sinoatrial node of heart failure rats. J Physiol Biochem. 2016;72:293-302 pubmed publisher
    ..These data indicated that bisoprolol is effective in HF treatment partially due to improved SAN function by reversing the down-regulation of sodium channels (Nav1.1 and Nav1.6) and HCN channel (HCN4) subunits in SAN in failing hearts. ..
  11. 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
    ..As such, the peptide described here may become a lead compound for a new class of positive inotropic agents. ..
  12. 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. ..
  13. Costa A, Lopes M, Rieger D, Barbosa S, Gonçalves F, Xikota J, et al. Differential Activation of Mitogen-Activated Protein Kinases, ERK 1/2, p38(MAPK) and JNK p54/p46 During Postnatal Development of Rat Hippocampus. Neurochem Res. 2016;41:1160-9 pubmed publisher
    ..The results showed: (1) phosphorylation peaks of p38(MAPK) at PN4 (p = 0.036) and PN10 to PN60; (2) phosphorylation of ERK1 and ERK2 were increased with age (ERK1 p = 0...
  14. Konno K, Kazuma K, Nihei K. Peptide Toxins in Solitary Wasp Venoms. Toxins (Basel). 2016;8:114 pubmed publisher
    ..These results of peptide toxins in solitary wasp venoms from our studies are summarized. ..
  15. Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, et al. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. Neurology. 2016;86:2162-70 pubmed publisher
    ..Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy. ..
  16. Neuhaus W, Schlundt M, Fehrholz M, Ehrke A, Kunzmann S, Liebner S, et al. Multiple Antenatal Dexamethasone Treatment Alters Brain Vessel Differentiation in Newborn Mouse Pups. PLoS ONE. 2015;10:e0136221 pubmed publisher
    ..led to the assumption that the morphology of brain vessels is affected by antenatal dexamethasone treatment at PN4. On the mRNA level markers for angiogenesis, the sonic hedgehog and the Wnt pathway were downregulated in PN4 ..
  17. Follwaczny P, Schieweck R, Riedemann T, Demleitner A, Straub T, Klemm A, et al. Pumilio2-deficient mice show a predisposition for epilepsy. Dis Model Mech. 2017;10:1333-1342 pubmed publisher
    ..Furthermore, we detect an age-dependent increase in Scn1a (Nav1.1) and Scn8a (Nav1.6) mRNA levels together with a decrease in Scn2a (Nav1...
  18. Li D, Zou X, El Ayachi I, Romero L, Yu Z, Iglesias Linares A, et al. Human Dental Pulp Stem Cells and Gingival Mesenchymal Stem Cells Display Action Potential Capacity In Vitro after Neuronogenic Differentiation. Stem Cell Rev. 2019;15:67-81 pubmed publisher
    ..We conclude that DPSCs and GMSCs have the potential to become neuronal cells in vitro, therefore, these cells may be used as a source for neural regeneration. ..
  19. Hong Z, Jie P, Tian Y, Chen T, Chen L, Chen L. Transient Receptor Potential Vanilloid 4-Induced Modulation of Voltage-Gated Sodium Channels in Hippocampal Neurons. Mol Neurobiol. 2016;53:759-768 pubmed publisher
  20. Reimer M, McQueen J, Searcy L, Scullion G, Zonta B, Desmazieres A, et al. Rapid disruption of axon-glial integrity in response to mild cerebral hypoperfusion. J Neurosci. 2011;31:18185-94 pubmed publisher
    ..Our results demonstrate that hypoperfusion leads to a rapid disruption of key proteins critical to the stability of the axon-glial connection that is mediated by a diversity of molecular events. ..
  21. McGlothlin J, Chuckalovcak J, JANES D, Edwards S, Feldman C, Pfrender M, et al. Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the garter snake Thamnophis sirtalis. Mol Biol Evol. 2014;31:2836-46 pubmed publisher
    ..Our results demonstrate that the molecular basis of adaptation may be both repeatable across members of a gene family and predictable based on functional considerations. ..
  22. Willis G, Fernandez Gonzalez A, Anastas J, Vitali S, Liu X, Ericsson M, et al. Mesenchymal Stromal Cell Exosomes Ameliorate Experimental Bronchopulmonary Dysplasia and Restore Lung Function Through Macrophage Immunomodulation. Am J Respir Crit Care Med. 2017;: pubmed publisher
    ..Newborn mice were exposed to hyperoxia (HYRX, 75% O2), treated with exosomes on postnatal day 4 (PN4) and returned to room air on PN7...
  23. Maksemous N, Smith R, Sutherland H, Sampaio H, Griffiths L. Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity. Int J Mol Sci. 2018;19: pubmed publisher
    ..2; KCNC2 (c.1006T>C: p.Ser336Pro) and Sodium channel Nav1.6; SCN8A (c.3421C>A: p.Pro1141Thr) genes were found in the proband...
  24. Jeong J, Wang G, Jeong S, Choi B, Lee H, Jeong M. Function of Secretory Leukocyte Protease Inhibitor (SLPI) in Odontoblast During Mouse Tooth Development. J Nanosci Nanotechnol. 2015;15:120-4 pubmed
    ..and immunohistochemical analysis, SLPI was expressed in odontoblasts and predentin on post-natal day 4 (PN4). On PN10, SLPI was observed under the dentin and apical region including odontoblasts processes...
  25. 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. ..
  26. Wen M, Yan Y, Yan N, Chen X, Liu S, Feng Z. Upregulation of RBFOX1 in the malformed cortex of patients with intractable epilepsy and in cultured rat neurons. Int J Mol Med. 2015;35:597-606 pubmed publisher
    ..protein, 25 kDa (SNAP‑25 or Snap25) and sodium channel, voltage gated, type VIII, alpha subunit (Scn8a, also known as Nav1...
  27. Mohammed H, Rimondini L, Rocchetti V. Molecular basis of trigeminal nerve disorders and healing. Eur Rev Med Pharmacol Sci. 2018;22:5755-5764 pubmed publisher
    ..6 sodium channels are essential for the diagnosis and treatment of trigeminal nerve disorders, regardless of whether these are associated with vascular compression or not. ..
  28. McGlothlin J, Kobiela M, Feldman C, Castoe T, Geffeney S, Hanifin C, et al. Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance. Curr Biol. 2016;26:1616-1621 pubmed publisher
    ..6 and Nav1.7. Our results show that adaptive protein evolution may be contingent upon enabling substitutions elsewhere in the genome, in this case, in paralogs of the same gene family. ..
  29. Zhu Z, Wang D, Jiao W, Chen G, Cao Y, Zhang Q, et al. Bioinformatics analyses of pathways and gene predictions in IL-1α and IL-1β knockout mice with spinal cord injury. Acta Histochem. 2017;119:663-670 pubmed publisher
    ..The PPI network consisted of 76 nodes, such as Saa2, Kcna1, Scn8a, Ccl5, Ccl28 and Pink1...
  30. 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. ..
  31. Hsieh J, Ulrich B, Issa F, Wan J, Papazian D. Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish. Front Neural Circuits. 2014;8:147 pubmed publisher
  32. Poulet C, Wettwer E, Grunnet M, Jespersen T, Fabritz L, Matschke K, et al. Late Sodium Current in Human Atrial Cardiomyocytes from Patients in Sinus Rhythm and Atrial Fibrillation. PLoS ONE. 2015;10:e0131432 pubmed publisher
    ..Expression of SCN8A and SCN10A was low in general, and lower in AF than in SR...
  33. Tseng T, Hsieh Y, Ko M, Hsieh S. Redistribution of voltage-gated sodium channels after nerve decompression contributes to relieve neuropathic pain in chronic constriction injury. Brain Res. 2014;1589:15-25 pubmed publisher
    ..These significant findings demonstrated a role of VGSCs in the pathogenesis of neuropathic pain, and gave an approaching in pharmacological basis of therapeutics. ..
  34. McMichael G, Bainbridge M, Haan E, Corbett M, Gardner A, Thompson S, et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015;20:176-82 pubmed publisher
    ..Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were ..
  35. Galanopoulou A, Mowrey W, Liu W, Li Q, Shandra O, Moshe S. Preclinical Screening for Treatments for Infantile Spasms in the Multiple Hit Rat Model of Infantile Spasms: An Update. Neurochem Res. 2017;42:1949-1961 pubmed publisher
    ..5-100 mg/kg i.p.) each was administered in different cohorts as single intraperitoneal injections on PN4, using a dose- and time-response design with intermittent monitoring till PN5...
  36. Butler K, da Silva C, Alexander J, Hegde M, Escayg A. Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. Pediatr Neurol. 2017;77:61-66 pubmed publisher
    ..Other genes in which disease-causing variants were identified in multiple individuals included CDKL5, SCN2A, SCN8A, SCN1B, STXBP1, TPP1, PCDH19, CACNA1A, GABRA1, GRIN2A, SLC2A1, and TSC2...
  37. Ko A, Youn S, Kim S, Lee J, Kim S, Choi J, et al. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Res. 2018;141:48-55 pubmed publisher
    ..sodium channel blockers were effective in patients with mutations in KCNQ2 and SCN2A in infancy, as well as SCN8A, and interestingly, the ketogenic diet also showed diverse efficacy for patients with SCN1A, CDKL5, KCNQ2, STXBP1, ..
  38. Hsu W, Nenov M, Shavkunov A, Panova N, Zhan M, Laezza F. Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation. PLoS ONE. 2015;10:e0117246 pubmed publisher
  39. Zhu H, Zhao Y, Wu H, Jiang N, Wang Z, Lin W, et al. Remarkable alterations of Nav1.6 in reactive astrogliosis during epileptogenesis. Sci Rep. 2016;6:38108 pubmed publisher
  40. Tolhurst T, Braun C, Boyko T, Schnick W, Moewes A. Experiment-Driven Modeling of Crystalline Phosphorus Nitride P3 N5 : Wide-Ranging Implications from a Unique Structure. Chemistry. 2016;22:10475-83 pubmed publisher
    ..Their binary parent compound P3 N5 , a polymeric network of corner- and edge-sharing PN4 tetrahedra with N and N sites, is a particularly interesting example...
  41. McNally M, Johnson J, Huisman T, Poretti A, Barañano K, Baschat A, et al. SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. Pediatr Neurol. 2016;64:87-91 pubmed publisher
    ..a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558)...
  42. Frasier C, Wagnon J, Bao Y, McVeigh L, Lopez Santiago L, Meisler M, et al. Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. Proc Natl Acad Sci U S A. 2016;113:12838-12843 pubmed publisher
    ..6, result in EIEE13 (OMIM 614558), which has a 10% risk of SUDEP...
  43. Weron A, Burnecki K, Akin E, Sole L, Balcerek M, Tamkun M, et al. Ergodicity breaking on the neuronal surface emerges from random switching between diffusive states. Sci Rep. 2017;7:5404 pubmed publisher
    ..Ergodicity breaking is found to take place due to transient confinement effects since the molecules alternate between free diffusion and confined motion. ..
  44. Luo S, Perry G, Levinson S, Henry M. Pulpitis increases the proportion of atypical nodes of Ranvier in human dental pulp axons without a change in Nav1.6 sodium channel expression. Neuroscience. 2010;169:1881-7 pubmed publisher
    ..The resultant heterogeneous population of isoforms may produce unique axonal excitability properties that could contribute to spontaneous pain sensations that are common in toothache. ..
  45. Li N, Liu Z, Wang G, Wang S. Downregulation of the sodium channel Nav1.6 by potential transcriptomic deregulation may explain sensory deficits in critical illness neuropathy. Life Sci. 2015;143:231-6 pubmed publisher
    ..The underlying mechanism of why the expression of the REST transcriptional factor is affected in critical illnesses remains our future goals of investigation. ..
  46. Shao H, Yang Y, Qi A, Hong P, Zhu G, Cao X, et al. Gastrodin Reduces the Severity of Status Epilepticus in the Rat Pilocarpine Model of Temporal Lobe Epilepsy by Inhibiting Nav1.6 Sodium Currents. Neurochem Res. 2017;42:360-374 pubmed publisher
    ..6 protein in SE-experienced EC neurons. These results suggest that the inhibition of Nav1.6 sodium currents may be the underlying mechanism of GAS's anticonvulsant properties. ..
  47. Chen L, Huang J, Zhao P, Persson A, Dib Hajj F, Cheng X, et al. Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain. Sci Rep. 2018;8:3845 pubmed publisher
    ..6 in NaV1.8-positive neurons does not influence pain thresholds under normal or pathological conditions, but NaV1.6 in large NaV1.8-negative DRG neurons plays an important role in neuropathic pain. ..
  48. Genini M, Schwalbe P, Scholl F, Schafer B. Isolation of genes differentially expressed in human primary myoblasts and embryonal rhabdomyosarcoma. Int J Cancer. 1996;66:571-7 pubmed
    ..These results suggest that several isolated clones might have an important role in the determination or maintenance of the normal phenotype, and thus their loss is possibly involved in the progression of malignancy. ..
  49. Chatelier A, Zhao J, Bois P, Chahine M. Biophysical characterisation of the persistent sodium current of the Nav1.6 neuronal sodium channel: a single-channel analysis. Pflugers Arch. 2010;460:77-86 pubmed publisher
    ..The cell-attached configuration revealed that the molecular mechanism of the whole-cell persistent current is a consequence of single Na(v)1.6 channels reopening. ..
  50. Pal D, Jones J, Wisidagamage S, Meisler M, Mashour G. Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics. PLoS ONE. 2015;10:e0134960 pubmed publisher
    ..This is the first report linking reduced activity of a specific voltage-gated sodium channel to increased sensitivity to general anesthetics in vivo. ..
  51. Das S, Singh M, Srivastava R, Bajaj D, Saxena M, Rana J, et al. mQTL-seq delineates functionally relevant candidate gene harbouring a major QTL regulating pod number in chickpea. DNA Res. 2016;23:53-65 pubmed publisher
    ..QTL-seq analysis and their correlation between two mapping populations based on mQTL-seq, narrowed down two (Caq(a)PN4.1: 867.8 kb and Caq(a)PN4.2: 1...
  52. Yang Y, Luo Z, Hao Y, Ba W, Wang R, Wang W, et al. mTOR-mediated Na+/Ca2+ exchange affects cell proliferation and metastasis of melanoma cells. Biomed Pharmacother. 2017;92:744-749 pubmed publisher
    ..The observations will provide a new perspective for understanding the malignant biological behavior of melanoma cells, and potentially provide a new drug target. ..
  53. Remacle A, Kumar S, Motamedchaboki K, Cieplak P, Hullugundi S, Dolkas J, et al. Matrix Metalloproteinase (MMP) Proteolysis of the Extracellular Loop of Voltage-gated Sodium Channels and Potential Alterations in Pain Signaling. J Biol Chem. 2015;290:22939-44 pubmed publisher
    ..7 and that the enhanced cleavage of the Nav1.7-R907Q mutant is a cause of CIP in the Bedouin family. ..
  54. Yin L, Rasch M, He Q, Wu S, Dou F, Shu Y. Selective Modulation of Axonal Sodium Channel Subtypes by 5-HT1A Receptor in Cortical Pyramidal Neuron. Cereb Cortex. 2017;27:509-521 pubmed publisher
  55. 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 (NaV1.6), by transcription factors, by alternative splicing, and by post-translational modifications...
  56. Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016;53:310-7 pubmed publisher
    ..Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) ..
  57. Raithel S, Sapio M, Iadarola M, Mannes A. Thermal A-? Nociceptors, Identified by Transcriptomics, Express Higher Levels of Anesthesia-Sensitive Receptors Than Thermal C-Fibers and Are More Suppressible by Low-Dose Isoflurane. Anesth Analg. 2017;: pubmed publisher
    ..databases of peripheral neurons were integrated to reveal that isoflurane-susceptible proteins Htr3a, Kcna2, and Scn8a were enriched in thermosensitive A-? neurons...
  58. Sprissler R, Wagnon J, Bunton Stasyshyn R, Meisler M, Hammer M. Altered gene expression profile in a mouse model of SCN8A encephalopathy. Exp Neurol. 2017;288:134-141 pubmed publisher
    b>SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo gain-of-function mutations in the voltage-gated sodium channel Nav1.6...
  59. Takahara K, Yamamoto T, Uchida K, Zhu H, Shibata A, Inai T, et al. Effects of 4,9-anhydrotetrodotoxin on voltage-gated Na+ channels of mouse vas deferens myocytes and recombinant NaV1.6 channels. Naunyn Schmiedebergs Arch Pharmacol. 2018;391:489-499 pubmed publisher
  60. Pucca M, Cerni F, Peigneur S, Bordon K, Tytgat J, Arantes E. Revealing the Function and the Structural Model of Ts4: Insights into the "Non-Toxic" Toxin from Tityus serrulatus Venom. Toxins (Basel). 2015;7:2534-50 pubmed publisher
    ..The absence of a Lys in the first amino acid residue of the N-terminal of Ts4 is probably the main responsible for its low toxicity. Other key amino acid residues important to the toxicity of α- and β-toxins are discussed here. ..
  61. Jones J, Dionne L, Dell Orco J, Parent R, Krueger J, Cheng X, et al. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiol Dis. 2016;89:36-45 pubmed publisher
    Mutations of the neuronal sodium channel gene SCN8A are associated with lethal movement disorders in the mouse and with human epileptic encephalopathy...
  62. Hernández Muñoz I, Figuerola E, Sánchez Molina S, Rodriguez E, Fernández Mariño A, Pardo Pastor C, et al. RING1B contributes to Ewing sarcoma development by repressing the NaV1.6 sodium channel and the NF-?B pathway, independently of the fusion oncoprotein. Oncotarget. 2016;7:46283-46300 pubmed publisher
    ..In ES cells, RING1B directly binds the SCN8A sodium channel promoter and its depletion results in enhanced Nav1.6 expression and function...
  63. Lu Y, Chua J, Huang D, Lee P, Liu S. Chemical consequences of three commercial strains of Oenococcus oeni co-inoculated with Torulaspora delbrueckii in durian wine fermentation. Food Chem. 2017;215:209-18 pubmed publisher
    ..70% v/v ethanol produced), samples co-inoculated with T. delbrueckii and O. oeni PN4 improved ethanol production (6...
  64. Mastrangelo M. Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics. 2017;48:143-151 pubmed publisher
    ..hybridization associated with late-onset cases or pathogenic mutations involving genes, such as GABRB3, ALG13, SCN8A, STXBP1, DNM1, FOXG1, or CHD2...
  65. Zhang X, Ding H, Xu T, Liu M, Ma C, Wu S, et al. Palmitoylation of δ-catenin promotes kinesin-mediated membrane trafficking of Nav1.6 in sensory neurons to promote neuropathic pain. Sci Signal. 2018;11: pubmed publisher
    ..6 complex enhances the transmission of mechanical and nociceptive signals; thus, blocking this mechanism may be therapeutic in patients with neuropathic pain. ..
  66. Burgess D, Kohrman D, Galt J, Plummer N, Jones J, Spear B, et al. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nat Genet. 1995;10:461-5 pubmed
    ..We have isolated a voltage-gated sodium channel gene, Scn8a, from the flanking region of a transgene-induced allele of med...
  67. Hernandez Plata E, Ortíz C, Marquina Castillo B, Medina Martinez I, Alfaro A, Berumen J, et al. Overexpression of NaV 1.6 channels is associated with the invasion capacity of human cervical cancer. Int J Cancer. 2012;130:2013-23 pubmed publisher
    ..We conclude that Na(V) 1.6 is upregulated in CaC and could serve as a novel molecular marker for the metastatic behavior of this carcinoma. ..
  68. Wagnon J, Barker B, Hounshell J, Haaxma C, Shealy A, Moss T, et al. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2016;3:114-23 pubmed publisher
    The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6...
  69. Plummer N, McBurney M, Meisler M. Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J Biol Chem. 1997;272:24008-15 pubmed
    The voltage-gated sodium channel alpha subunit SCN8A is one of the most abundant sodium channels in neurons from brain and spinal cord...
  70. Hawkins N, Martin M, Frankel W, Kearney J, Escayg A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiol Dis. 2011;41:655-60 pubmed publisher
    ..we used mouse models to study the effect of combining the human GEFS+ mutation SCN1A-R1648H with SCN2A, KCNQ2, and SCN8A mutations...
  71. Blanchard M, Willemsen M, Walker J, Dib Hajj S, Waxman S, Jongmans M, et al. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet. 2015;52:330-7 pubmed publisher
    ..6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and intellectual disability...
  72. Soderlund D, Tan J, He B. Functional reconstitution of rat Nav1.6 sodium channels in vitro for studies of pyrethroid action. Neurotoxicology. 2017;60:142-149 pubmed publisher
  73. Makinson C, Tanaka B, Sorokin J, Wong J, Christian C, Goldin A, et al. Regulation of Thalamic and Cortical Network Synchrony by Scn8a. Neuron. 2017;93:1165-1179.e6 pubmed publisher
    ..Here we present two mechanisms that help to explain how mutations in one VGSC gene, Scn8a, contribute to two distinct seizure phenotypes: (1) hypoexcitation of cortical circuits leading to convulsive ..
  74. Wang J, Gao H, Bao X, Zhang Q, Li J, Wei L, et al. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. BMC Med Genet. 2017;18:104 pubmed publisher
    b>SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations...
  75. Ortiz Madinaveitia S, Serrano Madrid M, Conejo Moreno D, Sagarra Mur D, Jiménez Corral C, Gutiérrez Alvarez A. [Early onset epileptic encephalopathy in a patient with mutation in <i>SCN8A</i>]. Rev Neurol. 2017;65:572-574 pubmed
    Encefalopatia epileptica de inicio precoz en un paciente con mutacion en <i>SCN8A</i>.
  76. Meisler M, O Brien J, Sharkey L. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol. 2010;588:1841-8 pubmed publisher
    ..A small number of mutations have been found in SCN2A, SCN3A and SCN9A, and studies in the mouse suggest that SCN8A may also contribute to seizure disorders...
  77. Estrada G, Restano Cassulini R, Ortiz E, Possani L, Corzo G. Addition of positive charges at the C-terminal peptide region of CssII, a mammalian scorpion peptide toxin, improves its affinity for sodium channels Nav1.6. Peptides. 2011;32:75-9 pubmed publisher
  78. Patel R, Barbosa C, Brustovetsky T, Brustovetsky N, Cummins T. Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol. Brain. 2016;139:2164-81 pubmed publisher
  79. El Ayachi I, Zhang J, Zou X, Yu Z, Wei W, O Connell K, et al. Human dental stem cell derived transgene-free iPSCs generate functional neurons via embryoid body-mediated and direct induction methods. J Tissue Eng Regen Med. 2017;: pubmed publisher
    ..Thus, TF-DSC iPSCs are capable of undergoing guided neurogenic differentiation into functional neurons in vitro, thereby may serve as a cell source for neural regeneration...
  80. Kong W, Zhang Y, Gao Y, Liu X, Gao K, Xie H, et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia. 2015;56:431-8 pubmed publisher
    Mutations in SCN8A, a voltage-gated sodium-channel type VIII alpha subunit gene, have recently been recognized as one of the pathogenic mechanisms leading to epilepsy and intellectual/developmental disabilities (IDDs)...
  81. Mercimek Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner E, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56:707-16 pubmed publisher
    ..on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes...
  82. Joós B, Barlow B, Morris C. Calculating the Consequences of Left-Shifted Nav Channel Activity in Sick Excitable Cells. Handb Exp Pharmacol. 2018;246:401-422 pubmed publisher
    ..For those who might find it useful for teaching or research purposes, we coded the Nav-CLS/node of Ranvier model (with pumps) in NEURON. We include, here, the resulting "Regimes" plot of classes of excitability dysfunction. ..
  83. Schiavon E, Sacco T, Cassulini R, Gurrola G, Tempia F, Possani L, et al. Resurgent current and voltage sensor trapping enhanced activation by a beta-scorpion toxin solely in Nav1.6 channel. Significance in mice Purkinje neurons. J Biol Chem. 2006;281:20326-37 pubmed
    ..We suggest that the novel and unique selectivity of Cn2 could make it a model drug to replace deep brain stimulation of the subthalamic nucleus in patients with Parkinson disease. ..
  84. Martin M, Tang B, Papale L, Yu F, Catterall W, Escayg A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum Mol Genet. 2007;16:2892-9 pubmed
    ..sodium channel genes that are primarily expressed in the central nervous system: SCN1A, SCN2A, SCN3A and SCN8A. Mutations in SCN1A and SCN2A are responsible for several dominant idiopathic epilepsy disorders, including ..
  85. Wang Y, Zhang J, Li X, Ji J, Yang F, Wan C, et al. SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population. Prog Neuropsychopharmacol Biol Psychiatry. 2008;32:1902-4 pubmed publisher
    ..A recent study found that suicide attempt was associated with the SCN8A gene, which has been mapped close to one of the BPD susceptibility loci...
  86. Larsen J, Carvill G, Gardella E, Kluger G, Schmiedel G, Barisic N, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015;84:480-9 pubmed publisher
    b>SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations...
  87. Igci Y, Bozgeyik E, Borazan E, Pala E, Suner A, Ulasli M, et al. Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma. Exp Oncol. 2015;37:77-80 pubmed
    The expression differences of SCN8A (which encodes type VIII alpha subunit of voltage gated sodium channel) and NDUFC2 (which encodes C2 subunit of Complex I enzyme in oxidative phosphorylation) genes were evaluated in paired colorectal ..
  88. Patel R, Barbosa C, Xiao Y, Cummins T. Human Nav1.6 Channels Generate Larger Resurgent Currents than Human Nav1.1 Channels, but the Navβ4 Peptide Does Not Protect Either Isoform from Use-Dependent Reduction. PLoS ONE. 2015;10:e0133485 pubmed publisher
    ..Overall, these two channels have distinct biophysical properties that may differentially contribute to regulating neuronal excitability. ..
  89. Gardella E, Becker F, Møller R, Schubert J, Lemke J, Larsen L, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016;79:428-36 pubmed publisher
    ..4447G>A; p.E1483K) in SCN8A, encoding a voltage-gated sodium channel. A founder effect was excluded by linkage analysis...
  90. Olamendi Portugal T, Restano Cassulini R, Riaño Umbarila L, Becerril B, Possani L. Functional and immuno-reactive characterization of a previously undescribed peptide from the venom of the scorpion Centruroides limpidus. Peptides. 2017;87:34-40 pubmed publisher
    ..Some of these differences coincide with contact points with the human antibody fragments. ..
  91. 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. ..