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Volumn 6, Issue MAY, 2015, Pages

Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy

Author keywords

CpG; Dravet syndrome; Epilepsy; Mutation; Seizures; Sodium channel; SUDEP

Indexed keywords

CARBAMAZEPINE; CORTICOTROPIN; CPG OLIGODEOXYNUCLEOTIDE; ETIRACETAM; GABAPENTIN; HARKOSERIDE; LAMOTRIGINE; LIDOCAINE; MIDAZOLAM; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.6; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

EID: 84930641362     PISSN: None     EISSN: 16642295     Source Type: Journal    
DOI: 10.3389/fneur.2015.00104     Document Type: Review
Times cited : (98)

References (53)
  • 1
    • 84861716984 scopus 로고    scopus 로고
    • Voltage-gated sodium channels at 60: structure, function and pathophysiology
    • Catterall WA. Voltage-gated sodium channels at 60: structure, function and pathophysiology. J Physiol (2012) 590:2577-89. doi: 10.1113/jphysiol.2011.224204.
    • (2012) J Physiol , vol.590 , pp. 2577-2589
    • Catterall, W.A.1
  • 2
    • 77954514571 scopus 로고    scopus 로고
    • Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
    • Meisler MH, O'brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol (2010) 588:1841-8. doi:10.1113/jphysiol.2010.188482.
    • (2010) J Physiol , vol.588 , pp. 1841-1848
    • Meisler, M.H.1    O'brien, J.E.2    Sharkey, L.M.3
  • 3
    • 84893440324 scopus 로고    scopus 로고
    • Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
    • O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet (2013) 4:213. doi:10.3389/fgene.2013.00213.
    • (2013) Front Genet , vol.4 , pp. 213
    • O'Brien, J.E.1    Meisler, M.H.2
  • 5
    • 58149393984 scopus 로고    scopus 로고
    • Cell-type-dependent molecular composition of the axon initial segment
    • Lorincz A, Nusser Z. Cell-type-dependent molecular composition of the axon initial segment. J Neurosci (2008) 28:14329-40. doi:10.1523/JNEUROSCI.4833-08.2008.
    • (2008) J Neurosci , vol.28 , pp. 14329-14340
    • Lorincz, A.1    Nusser, Z.2
  • 6
    • 84920482021 scopus 로고    scopus 로고
    • Action potential initiation in neocortical inhibitory interneurons
    • Li T, Tian C, Scalmani P, Frassoni C, Mantegazza M, Wang Y, et al. Action potential initiation in neocortical inhibitory interneurons. PLoS Biol (2014) 12:e1001944. doi:10.1371/journal.pbio.1001944.
    • (2014) PLoS Biol , vol.12
    • Li, T.1    Tian, C.2    Scalmani, P.3    Frassoni, C.4    Mantegazza, M.5    Wang, Y.6
  • 7
    • 84907402346 scopus 로고    scopus 로고
    • Molecular identity of axonal sodium channels in human cortical pyramidal cells
    • Tian C, Wang K, Ke W, Guo H, Shu Y. Molecular identity of axonal sodium channels in human cortical pyramidal cells. Front Cell Neurosci (2014) 8:297. doi:10.3389/fncel.2014.00297.
    • (2014) Front Cell Neurosci , vol.8 , pp. 297
    • Tian, C.1    Wang, K.2    Ke, W.3    Guo, H.4    Shu, Y.5
  • 8
    • 68149161179 scopus 로고    scopus 로고
    • Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation
    • Hu W, Tian C, Li T, Yang M, Hou H, Shu Y. Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation. Nat Neurosci (2009) 12:996-1002. doi:10.1038/nn.2359.
    • (2009) Nat Neurosci , vol.12 , pp. 996-1002
    • Hu, W.1    Tian, C.2    Li, T.3    Yang, M.4    Hou, H.5    Shu, Y.6
  • 9
    • 0037108736 scopus 로고    scopus 로고
    • Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6)
    • Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, et al. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum Mol Genet (2002) 11:2765-75. doi:10.1093/hmg/11.22.2765.
    • (2002) Hum Mol Genet , vol.11 , pp. 2765-2775
    • Kearney, J.A.1    Buchner, D.A.2    De Haan, G.3    Adamska, M.4    Levin, S.I.5    Furay, A.R.6
  • 10
    • 47749096170 scopus 로고    scopus 로고
    • Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6)
    • McKinney BC, Chow CY, Meisler MH, Murphy GG. Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6). Genes Brain Behav (2008) 7:629-38. doi:10.1111/j.1601-183X.2008.00399.x.
    • (2008) Genes Brain Behav , vol.7 , pp. 629-638
    • McKinney, B.C.1    Chow, C.Y.2    Meisler, M.H.3    Murphy, G.G.4
  • 11
    • 77952756932 scopus 로고    scopus 로고
    • Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory
    • Papale LA, Paul KN, Sawyer NT, Manns JR, Tufik S, Escayg A. Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory. J Biol Chem (2010) 285:16553-61. doi:10.1074/jbc.M109.090084.
    • (2010) J Biol Chem , vol.285 , pp. 16553-16561
    • Papale, L.A.1    Paul, K.N.2    Sawyer, N.T.3    Manns, J.R.4    Tufik, S.5    Escayg, A.6
  • 12
    • 64549151353 scopus 로고    scopus 로고
    • Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
    • Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, et al. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet (2009) 18:1633-41. doi:10.1093/hmg/ddp081.
    • (2009) Hum Mol Genet , vol.18 , pp. 1633-1641
    • Papale, L.A.1    Beyer, B.2    Jones, J.M.3    Sharkey, L.M.4    Tufik, S.5    Epstein, M.6
  • 13
    • 33745281204 scopus 로고    scopus 로고
    • Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation
    • Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet (2006) 43:527-30. doi:10.1136/jmg.2005.035667.
    • (2006) J Med Genet , vol.43 , pp. 527-530
    • Trudeau, M.M.1    Dalton, J.C.2    Day, J.W.3    Ranum, L.P.4    Meisler, M.H.5
  • 14
    • 64249169376 scopus 로고    scopus 로고
    • Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
    • Sharkey LM, Jones JM, Hedera P, Meisler MH. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism Relat Disord (2009) 15:321-3. doi:10.1016/j.parkreldis.2008.06.010.
    • (2009) Parkinsonism Relat Disord , vol.15 , pp. 321-323
    • Sharkey, L.M.1    Jones, J.M.2    Hedera, P.3    Meisler, M.H.4
  • 15
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, 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. doi:10.1016/j.ajhg.2012.01.006.
    • (2012) Am J Hum Genet , vol.90 , pp. 502-510
    • Veeramah, K.R.1    O'Brien, J.E.2    Meisler, M.H.3    Cheng, X.4    Dib-Hajj, S.D.5    Waxman, S.G.6
  • 16
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
    • Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 380:1674-82. doi:10.1016/S0140-6736(12)61480-9.
    • (2012) Lancet , vol.380 , pp. 1674-1682
    • Rauch, A.1    Wieczorek, D.2    Graf, E.3    Wieland, T.4    Endele, S.5    Schwarzmayr, T.6
  • 17
    • 84879684377 scopus 로고    scopus 로고
    • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    • Carvill GL, Heavin SB, Yendle SC, Mcmahon JM, O'Roak BJ, Cook J, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 45:825-30. doi:10.1038/ng.2646.
    • (2013) Nat Genet , vol.45 , pp. 825-830
    • Carvill, G.L.1    Heavin, S.B.2    Yendle, S.C.3    Mcmahon, J.M.4    O'Roak, B.J.5    Cook, J.6
  • 18
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, et al. De novo mutations in epileptic encephalopathies. Nature (2013) 501:217-21. doi:10.1038/nature12439.
    • (2013) Nature , vol.501 , pp. 217-221
    • Allen, A.S.1    Berkovic, S.F.2    Cossette, P.3    Delanty, N.4
  • 19
    • 84927771862 scopus 로고    scopus 로고
    • De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
    • Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, et al. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol (2013) 29:202-6. doi:10.1177/0883073813511300.
    • (2013) J Child Neurol , vol.29 , pp. 202-206
    • Vaher, U.1    Noukas, M.2    Nikopensius, T.3    Kals, M.4    Annilo, T.5    Nelis, M.6
  • 21
    • 84930387639 scopus 로고    scopus 로고
    • Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
    • Dyment DA, Tetreault M, Beaulieu CL, Hartley T, Ferreira P, Warman Chardon J, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet (2014). doi:10.1111/cge.12464.
    • (2014) Clin Genet
    • Dyment, D.A.1    Tetreault, M.2    Beaulieu, C.L.3    Hartley, T.4    Ferreira, P.5    Warman Chardon, J.6
  • 22
    • 84902106984 scopus 로고    scopus 로고
    • A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
    • Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, 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. doi:10.1016/j.nbd.2014.05.017.
    • (2014) Neurobiol Dis , vol.69 , pp. 117-123
    • Estacion, M.1    O'Brien, J.E.2    Conravey, A.3    Hammer, M.F.4    Waxman, S.G.5    Dib-Hajj, S.D.6
  • 23
    • 84904392275 scopus 로고    scopus 로고
    • Early onset epileptic encephalopathy caused by de novo SCN8A mutations
    • 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. doi:10.1111/epi.12668.
    • (2014) Epilepsia , vol.55 , pp. 994-1000
    • Ohba, C.1    Kato, M.2    Takahashi, S.3    Lerman-Sagie, T.4    Lev, D.5    Terashima, H.6
  • 24
    • 84930618852 scopus 로고    scopus 로고
    • De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
    • Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, 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. doi:10.1136/jmedgenet-2014-102813.
    • (2015) J Med Genet , vol.52 , pp. 330-337
    • Blanchard, M.G.1    Willemsen, M.H.2    Walker, J.B.3    Dib-Hajj, S.D.4    Waxman, S.G.5    Jongmans, M.C.6
  • 27
    • 84925352294 scopus 로고    scopus 로고
    • Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
    • Singh R, Jayapal S, Goyal S, Jungbluth H, Lascelles K. Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. Seizure (2015) 26:69-71. doi:10.1016/j.seizure.2015.01.017.
    • (2015) Seizure , vol.26 , pp. 69-71
    • Singh, R.1    Jayapal, S.2    Goyal, S.3    Jungbluth, H.4    Lascelles, K.5
  • 28
    • 84924666082 scopus 로고    scopus 로고
    • Large-scale discovery of novel genetic causes of developmental disorders
    • The Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature (2015) 519:223-8. doi:10.1038/nature14135.
    • (2015) Nature , vol.519 , pp. 223-228
  • 30
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 9:e1003709. doi:10.1371/journal.pgen.1003709.
    • (2013) PLoS Genet , vol.9
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3    Allen, A.S.4    Goldstein, D.B.5
  • 31
    • 20844446135 scopus 로고    scopus 로고
    • A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
    • Spampanato J, Kearney JA, De Haan G, Mcewen DP, Escayg A, Aradi I, et al. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci (2004) 24:10022-34. doi:10.1523/JNEUROSCI.2034-04.2004.
    • (2004) J Neurosci , vol.24 , pp. 10022-10034
    • Spampanato, J.1    Kearney, J.A.2    De Haan, G.3    Mcewen, D.P.4    Escayg, A.5    Aradi, I.6
  • 32
    • 0037428518 scopus 로고    scopus 로고
    • Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B
    • Liu CJ, Dib-Hajj SD, Renganathan M, Cummins TR, Waxman SG. Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B. J Biol Chem (2003) 278:1029-36. doi:10.1074/jbc.M207074200.
    • (2003) J Biol Chem , vol.278 , pp. 1029-1036
    • Liu, C.J.1    Dib-Hajj, S.D.2    Renganathan, M.3    Cummins, T.R.4    Waxman, S.G.5
  • 33
    • 3342991643 scopus 로고    scopus 로고
    • Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons
    • Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci (2004) 24:6765-75. doi:10.1523/JNEUROSCI.1628-04.2004.
    • (2004) J Neurosci , vol.24 , pp. 6765-6775
    • Wittmack, E.K.1    Rush, A.M.2    Craner, M.J.3    Goldfarb, M.4    Waxman, S.G.5    Dib-Hajj, S.D.6
  • 34
    • 68349095136 scopus 로고    scopus 로고
    • FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels
    • Laezza F, Lampert A, Kozel MA, Gerber BR, Rush AM, Nerbonne JM, et al. FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels. Mol Cell Neurosci (2009) 42:90-101. doi:10.1016/j.mcn.2009.05.007.
    • (2009) Mol Cell Neurosci , vol.42 , pp. 90-101
    • Laezza, F.1    Lampert, A.2    Kozel, M.A.3    Gerber, B.R.4    Rush, A.M.5    Nerbonne, J.M.6
  • 35
    • 0037138403 scopus 로고    scopus 로고
    • Calmodulin signaling via the IQ motif
    • Bahler M, Rhoads A. Calmodulin signaling via the IQ motif. FEBS Lett (2002) 513:107-13. doi:10.1016/S0014-5793(01)03239-2.
    • (2002) FEBS Lett , vol.513 , pp. 107-113
    • Bahler, M.1    Rhoads, A.2
  • 38
    • 3342929286 scopus 로고    scopus 로고
    • Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
    • Rhodes TH, Lossin C, Vanoye CG, Wang DW, George AL Jr. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 101:11147-52. doi:10.1073/pnas.0402482101.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 11147-11152
    • Rhodes, T.H.1    Lossin, C.2    Vanoye, C.G.3    Wang, D.W.4    George, A.L.5
  • 39
    • 0035863416 scopus 로고    scopus 로고
    • A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
    • Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, Waxman SG, et al. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience (2001) 102:307-17. doi:10.1016/S0306-4522(00)00479-6.
    • (2001) Neuroscience , vol.102 , pp. 307-317
    • Kearney, J.A.1    Plummer, N.W.2    Smith, M.R.3    Kapur, J.4    Cummins, T.R.5    Waxman, S.G.6
  • 40
    • 14344277590 scopus 로고    scopus 로고
    • A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, et al. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A (2001) 98:6384-9. doi:10.1073/pnas.111065098.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 6384-6389
    • Sugawara, T.1    Tsurubuchi, Y.2    Agarwala, K.L.3    Ito, M.4    Fukuma, G.5    Mazaki-Miyazaki, E.6
  • 41
    • 78049523940 scopus 로고    scopus 로고
    • SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
    • Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, et al. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology (2010) 75:1454-8. doi:10.1212/WNL.0b013e3181f8812e.
    • (2010) Neurology , vol.75 , pp. 1454-1458
    • Liao, Y.1    Anttonen, A.K.2    Liukkonen, E.3    Gaily, E.4    Maljevic, S.5    Schubert, S.6
  • 42
    • 77951889844 scopus 로고    scopus 로고
    • Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
    • Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain (2010) 133:1403-14. doi:10.1093/brain/awq057.
    • (2010) Brain , vol.133 , pp. 1403-1414
    • Liao, Y.1    Deprez, L.2    Maljevic, S.3    Pitsch, J.4    Claes, L.5    Hristova, D.6
  • 43
    • 84883741520 scopus 로고    scopus 로고
    • An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current
    • Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, et al. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. Epilepsia (2013) 54:e117-21. doi:10.1111/epi.12241.
    • (2013) Epilepsia , vol.54 , pp. e117-e121
    • Lauxmann, S.1    Boutry-Kryza, N.2    Rivier, C.3    Mueller, S.4    Hedrich, U.B.5    Maljevic, S.6
  • 44
    • 39149136856 scopus 로고    scopus 로고
    • 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, et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett (2008) 433:65-70. doi:10.1016/j.neulet.2007.12.064.
    • (2008) Neurosci Lett , vol.433 , pp. 65-70
    • Holland, K.D.1    Kearney, J.A.2    Glauser, T.A.3    Buck, G.4    Keddache, M.5    Blankston, J.R.6
  • 45
    • 77954658120 scopus 로고    scopus 로고
    • 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. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons. Exp Neurol (2010) 224:362-8. doi:10.1016/j.expneurol.2010.04.012.
    • (2010) Exp Neurol , vol.224 , pp. 362-368
    • Estacion, M.1    Gasser, A.2    Dib-Hajj, S.D.3    Waxman, S.G.4
  • 46
    • 0346106074 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels
    • Spampanato J, Escayg A, Meisler MH, Goldin AL. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience (2003) 116:37-48. doi:10.1016/S0306-4522(02)00698-X.
    • (2003) Neuroscience , vol.116 , pp. 37-48
    • Spampanato, J.1    Escayg, A.2    Meisler, M.H.3    Goldin, A.L.4
  • 47
    • 29244448307 scopus 로고    scopus 로고
    • Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures
    • Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol (2005) 569:433-45. doi:10.1113/jphysiol.2005.094326.
    • (2005) J Physiol , vol.569 , pp. 433-445
    • Rhodes, T.H.1    Vanoye, C.G.2    Ohmori, I.3    Ogiwara, I.4    Yamakawa, K.5    George, A.L.6
  • 48
    • 70349686767 scopus 로고    scopus 로고
    • De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies
    • Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, et al. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology (2009) 73:1046-53. doi:10.1212/WNL.0b013e3181b9cebc.
    • (2009) Neurology , vol.73 , pp. 1046-1053
    • Ogiwara, I.1    Ito, K.2    Sawaishi, Y.3    Osaka, H.4    Mazaki, E.5    Inoue, I.6
  • 49
    • 33847344389 scopus 로고    scopus 로고
    • Gating pore current in an inherited ion channelopathy
    • Sokolov S, Scheuer T, Catterall WA. Gating pore current in an inherited ion channelopathy. Nature (2007) 446:76-8. doi:10.1038/nature05598.
    • (2007) Nature , vol.446 , pp. 76-78
    • Sokolov, S.1    Scheuer, T.2    Catterall, W.A.3
  • 50
    • 84861664954 scopus 로고    scopus 로고
    • A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype
    • Gosselin-Badaroudine P, Keller DI, Huang H, Pouliot V, Chatelier A, Osswald S, et al. A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. PLoS One (2012) 7:e38331. doi:10.1371/journal.pone.0038331.
    • (2012) PLoS One , vol.7
    • Gosselin-Badaroudine, P.1    Keller, D.I.2    Huang, H.3    Pouliot, V.4    Chatelier, A.5    Osswald, S.6
  • 51
    • 84892672005 scopus 로고    scopus 로고
    • Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a
    • Jones JM, Meisler MH. Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a. Genesis (2014) 52:141-8. doi:10.1002/dvg.22731.
    • (2014) Genesis , vol.52 , pp. 141-148
    • Jones, J.M.1    Meisler, M.H.2
  • 52
    • 84922475507 scopus 로고    scopus 로고
    • Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
    • Wagnon JL, Korn MJ, Parent R, Tarpey TA, Jones JM, Hammer MF, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet (2015) 24:506-15. doi:10.1093/hmg/ddu470.
    • (2015) Hum Mol Genet , vol.24 , pp. 506-515
    • Wagnon, J.L.1    Korn, M.J.2    Parent, R.3    Tarpey, T.A.4    Jones, J.M.5    Hammer, M.F.6
  • 53
    • 84924979951 scopus 로고    scopus 로고
    • SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability
    • 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.
    • (2015) Epilepsia , vol.56 , pp. 431-438
    • Kong, W.1    Zhang, Y.2    Gao, Y.3    Liu, X.4    Gao, K.5    Xie, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.