SCN8A encephalopathy: Mechanisms and models
dc.contributor.author | Meisler, Miriam H. | |
dc.date.accessioned | 2020-01-13T15:02:20Z | |
dc.date.available | WITHHELD_12_MONTHS | |
dc.date.available | 2020-01-13T15:02:20Z | |
dc.date.issued | 2019-12 | |
dc.identifier.citation | Meisler, Miriam H. (2019). "SCN8A encephalopathy: Mechanisms and models." Epilepsia : S86-S91. | |
dc.identifier.issn | 0013-9580 | |
dc.identifier.issn | 1528-1167 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/152476 | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.subject.other | encephalopathy | |
dc.subject.other | mouse model | |
dc.subject.other | mutation | |
dc.subject.other | SCN8A | |
dc.subject.other | sodium channel | |
dc.title | SCN8A encephalopathy: Mechanisms and models | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Medicine (General) | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152476/1/epi14703_am.pdf | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152476/2/epi14703.pdf | |
dc.identifier.doi | 10.1111/epi.14703 | |
dc.identifier.source | Epilepsia | |
dc.identifier.citedreference | Anderson LL, Hawkins NA, Thompson CH, Kearney JA, George AL. Unexpected efficacy of a novel sodium channel modulator in Dravet syndrome. Sci Rep. 2017; 7: 1682. | |
dc.identifier.citedreference | Lopez‐Santiago LF, Yuan Y, Wagnon JL, et al. Neuronal hyperexcitability in a mouse model of SCN8A encephalopathy. Proc Natl Acad Sci U S A. 2017; 114: 2383 – 8. | |
dc.identifier.citedreference | Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK. Aberrant sodium channel currents and hyperexcitability of medial entorhinal cortex neurons in a mouse model of SCN8A encephalopathy. J Neurosci. 2017; 37: 7643 – 55. | |
dc.identifier.citedreference | Noujaim SF, Kaur K, Milstein M, et al. A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation‐contraction coupling in the mouse heart. FASEB J. 2012; 26: 63 – 72. | |
dc.identifier.citedreference | Frasier CR, Wagnon JL, Bao Y, et al. Cardiac arrhythmia in a mouse model of SCN8A epileptic encephalopathy. Proc Natl Acad Sci U S A. 2016; 113: 12838 – 43. | |
dc.identifier.citedreference | Sprissler RS, Wagnon JL, Bunton‐Stasyshyn RK, Meisler MH, Hammer MF. Altered gene expression profile in a mouse model of SCN8A epilepsy reveals reactive astrocytosis in response to seizures. Exp Neurol. 2016; 288: 134 – 41. | |
dc.identifier.citedreference | Yu FH, Mantegazza M, Westenbroek RE, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci. 2006; 9: 1142 – 9. | |
dc.identifier.citedreference | Anderson LL, Thompson CH, Hawkins NA, et al. Antiepileptic activity of preferential inhibitors of persistent sodium current. Epilepsia. 2014; 55: 1274 – 83. | |
dc.identifier.citedreference | Royeck M, Horstmann MT, Remy S, Reitze M, Yaari Y, Beck H. Role of axonal NaV1.6 sodium channels in action potential initiation of CA1 pyramidal neurons. J Neurophysiol. 2008; 100: 2361 – 80. | |
dc.identifier.citedreference | Osorio N, Cathala L, Meisler MH, Crest M, Magistretti J, Delmas P. Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells. J Physiol. 2010; 588 ( Pt 4 ): 651 – 70. | |
dc.identifier.citedreference | Enomoto A, Han JM, Hsiao CF, Chandler SH. Sodium currents in mesencephalic trigeminal neurons from Nav1.6 null mice. J Neurophysiol. 2007; 98: 710 – 9. | |
dc.identifier.citedreference | Baker EM, Thompson CH, Hawkins NA, et al. The novel sodium channel modulator GS‐458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. Epilepsia. 2018; 59: 1166 – 76. | |
dc.identifier.citedreference | Roovers J, De Jonghe P, Weckhuysen S. The therapeutic potential of RNA regulation in neurological disorders. Expert Opin Ther Targets. 2018; 22: 1017 – 28. | |
dc.identifier.citedreference | Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015; 84: 480 – 9. | |
dc.identifier.citedreference | Gardella E, Becker F, Moller RS, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016; 79: 428 – 36. | |
dc.identifier.citedreference | Wagnon JL, Barker BS, Ottolini M, et al. Loss‐of‐function mutations of SCN8A in intellectual disability without seizures. Neurol Genet. 2017; 3: e170. | |
dc.identifier.citedreference | Wagnon JL, Mencacci NE, Barker BS, et al. Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat. 2018; 39: 965 – 9. | |
dc.identifier.citedreference | 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. | |
dc.identifier.citedreference | 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. | |
dc.identifier.citedreference | Burgess DL, Kohrman DC, Galt J, et al. Mutation of a new sodium channel gene, SCN8A, in the mouse mutant ‘motor endplate disease’. Nat Genet. 1995; 10 ( 4 ): 461 – 5. | |
dc.identifier.citedreference | Kohrman DC, Harris JB, Meisler MH. Mutation detection in the med and medJ alleles of the sodium channel SCN8A. Unusual splicing due to a minor class AT‐AC intron. J Biol Chem. 1996; 271: 17576 – 81. | |
dc.identifier.citedreference | Kohrman DC, Smith MR, Goldin AL, Harris J, Meisler MH. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J Neurosci. 1996; 16: 5993 – 9. | |
dc.identifier.citedreference | Veeramah KR, O’Brien JE, Meisler MH, 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. | |
dc.identifier.citedreference | Wagnon JL, Korn MJ, Parent R, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet. 2015; 24: 506 – 15. | |
dc.identifier.citedreference | Meisler MH, Helman G, Hammer MF, et al. SCN8A encephalopathy: research progress and prospects. Epilepsia. 2016; 57: 1027 – 35. | |
dc.identifier.citedreference | Wagnon JL, Meisler MH. Recurrent and non‐recurrent mutations of SCN8A in epileptic encephalopathy. Front Neurol. 2015; 6: 104. | |
dc.identifier.citedreference | Wagnon JL, Barker BS, Hounshell JA, et al. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2016; 3: 114 – 23. | |
dc.identifier.citedreference | Bunton‐Stasyshyn RKA, Wagnon JL, Wengert ER, et al. Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Brain. 2019; 142 ( 2 ): 362 – 75. | |
dc.identifier.citedreference | Jones JM, Meisler MH. Modeling human epilepsy by TALEN targeting of mouse sodium channel SCN8A. Genesis. 2014; 52: 141 – 8. | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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