Citations for
1EIEE62, SCN3A
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM.
Ann Neurol 83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30. 2018
2SCN3A
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
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, Bönnemann 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.
Neuron 99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23. 2018
3EIEE62, SCN2A, SCN3A
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
Seizure 60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13. 2018
4SCN3A
Sodium channel NaV1.3 is important for enterochromaffin cell excitability and serotonin release.
Strege PR, Knutson K, Eggers SJ, Li JH, Wang F, Linden D, Szurszewski JH, Milescu L, Leiter AB, Farrugia G, Beyder A.
Sci Rep 7(1):15650. doi: 10.1038/s41598-017-15834-3. 2017
5SCN3A
SCN3A deficiency associated with increased seizure susceptibility.
Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA.
Neurobiol Dis 102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22. 2017
6SCN3A, SOD1
Mutant SOD1 protein increases Nav1.3 channel excitability.
Kubat Öktem E, Mruk K, Chang J, Akin A, Kobertz WR, Brown RH Jr.
J Biol Phys 42(3):351-70. doi: 10.1007/s10867-016-9411-x. Epub 2016 Apr 12. Erratum in: J Biol Phys. 2016 Jun;42(3):371. 2016
7SCN1A, SCN3A
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.
Mol Neurobiol 51(3):1263-70. doi: 10.1007/s12035-014-8802-x. Epub 2014 Jul 3. 2015
8FFEV4, SCN3A
Novel SCN3A variants associated with focal epilepsy in children.
Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA.
Neurobiol Dis 62:313-22. doi: 10.1016/j.nbd.2013.10.015. Epub 2013 Oct 21. 2014
9SCN3A
Expression of voltage-gated sodium channel Nav1.3 is associated with severity of traumatic brain injury in adult rats.
Huang XJ, Mao Q, Lin Y, Feng JF, Jiang JY.
J Neurotrauma 30(1):39-46. doi: 10.1089/neu.2012.2508. Epub 2012 Dec 12. 2013
10DEl2Q24, SCN1A, SCN2A, SCN3A
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
Epilepsia pilepsia. 2012 Sep 27. doi: 10.1111/j.1528-1167.2012.03676.x. [Epub ahead of print] 2012
11SCN3A
Upregulated expression of voltage-gated sodium channel Nav1.3 in cortical lesions of patients with focal cortical dysplasia type IIb.
Yu S, Li S, Shu H, Zhang C, He J, Fan X, Yang H.
Neuroreport 23(7):407-11. doi: 10.1097/WNR.0b013e328351db48. 2012
12DEl2Q24, SCN1A, SCN2A, SCN3A
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
Am J Med Genet A 155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. No abstract available. 2011
13SCN1A, SCN2A, SCN3A, SCN5A
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
Gazina EV, Richards KL, Mokhtar MB, Thomas EA, Reid CA, Petrou S.
Neuroscience 166(1):195-200. Epub 2009 Dec 17.PMID: 20006674 2010
14SCN3A
A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons.
Estacion M, Gasser A, Dib-Hajj SD, Waxman SG.
Exp Neurol 224(2):362-8. Epub 2010 Apr 24.PMID: 20420834 2010
15SCN3A
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
Meisler MH, O'Brien JE, Sharkey LM.
J Physiol 588(Pt 11):1841-8. Epub 2010 Mar 29. Review.PMID: 20351042 2010
16SCN3A
Sodium channel carboxyl-terminal residue regulates fast inactivation.
Nguyen HM, Goldin AL.
J Biol Chem 285(12):9077-89. Epub 2010 Jan 20.PMID: 20089854 2010
17SCN2A, SCN3A, SCN9A, TRPM5
Voltage-gated sodium channels in taste bud cells.
Gao N, Lu M, Echeverri F, Laita B, Kalabat D, Williams ME, Hevezi P, Zlotnik A, Moyer BD.
BMC Neurosci 10:20.PMID: 19284629 2009
18DEl2Q24, EIEE74, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI2
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.
Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
19SCN3A
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH.
Neurosci Lett 433(1):65-70. Epub 2008 Jan 11.PMID: 18242854 2008
20SCN1A, SCN2A, SCN3A
Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.
Martin MS, Tang B, Ta N, Escayg A.
Genomics 90(2):225-35. Epub 2007 Jun 4. 2007
21SCN1A, SCN2A, SCN3A
Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH.
Mol Psychiatry 8(2):186-94. 2003
22SCN2A, SCN3A
Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ.
Gene 264(1):113-22. 2001
23SCN3A
Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit.
Lu CM, et al.
J Mol Neurosci 10 : 67-70. 1998
24SCN3A
Targeted gene walking by low stringency polymerase chain reaction : assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31.
Malo MS, et al.
Proc Natl Acad Sci U S A 91 : 2975-2979. 1994