View Item 

Show simple item record

SCN8A encephalopathy: Mechanisms and models
dc.contributor.authorMeisler, Miriam H.
dc.date.accessioned2020-01-13T15:02:20Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2020-01-13T15:02:20Z
dc.date.issued2019-12
dc.identifier.citationMeisler, Miriam H. (2019). "SCN8A encephalopathy: Mechanisms and models." Epilepsia : S86-S91.
dc.identifier.issn0013-9580
dc.identifier.issn1528-1167
dc.identifier.urihttps://hdl.handle.net/2027.42/152476
dc.publisherWiley Periodicals, Inc.
dc.subject.otherencephalopathy
dc.subject.othermouse model
dc.subject.othermutation
dc.subject.otherSCN8A
dc.subject.othersodium channel
dc.titleSCN8A encephalopathy: Mechanisms and models
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelMedicine (General)
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152476/1/epi14703_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152476/2/epi14703.pdf
dc.identifier.doi10.1111/epi.14703
dc.identifier.sourceEpilepsia
dc.identifier.citedreferenceAnderson 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.citedreferenceLopez‐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.citedreferenceOttolini 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.citedreferenceNoujaim 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.citedreferenceFrasier 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.citedreferenceSprissler 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.citedreferenceYu 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.citedreferenceAnderson LL, Thompson CH, Hawkins NA, et al. Antiepileptic activity of preferential inhibitors of persistent sodium current. Epilepsia. 2014; 55: 1274 – 83.
dc.identifier.citedreferenceRoyeck 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.citedreferenceOsorio 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.citedreferenceEnomoto 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.citedreferenceBaker 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.citedreferenceRoovers 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.citedreferenceLarsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015; 84: 480 – 9.
dc.identifier.citedreferenceGardella 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.citedreferenceWagnon 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.citedreferenceWagnon 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.citedreferenceTrudeau 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.citedreferenceSharkey 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.citedreferenceBurgess 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.citedreferenceKohrman 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.citedreferenceKohrman 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.citedreferenceVeeramah 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.citedreferenceWagnon 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.citedreferenceMeisler MH, Helman G, Hammer MF, et al. SCN8A encephalopathy: research progress and prospects. Epilepsia. 2016; 57: 1027 – 35.
dc.identifier.citedreferenceWagnon JL, Meisler MH. Recurrent and non‐recurrent mutations of SCN8A in epileptic encephalopathy. Front Neurol. 2015; 6: 104.
dc.identifier.citedreferenceWagnon 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.citedreferenceBunton‐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.citedreferenceJones JM, Meisler MH. Modeling human epilepsy by TALEN targeting of mouse sodium channel SCN8A. Genesis. 2014; 52: 141 – 8.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Name:
epi14703_am.pdf
Size:
565.2KB
Format:
PDF
View/Open
Name:
epi14703.pdf
Size:
615.3KB
Format:
PDF
View/Open

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.