View Item 

Show simple item record

Scn1b deletion in adult mice results in seizures and SUDEP
dc.contributor.authorO’Malley, Heather A.
dc.contributor.authorHull, Jacob M.
dc.contributor.authorClawson, Brittany C.
dc.contributor.authorChen, Chunling
dc.contributor.authorOwens‐fiestan, Gic
dc.contributor.authorJameson, Margaret B.
dc.contributor.authorAton, Sara J.
dc.contributor.authorParent, Jack M.
dc.contributor.authorIsom, Lori L.
dc.date.accessioned2019-06-20T17:06:29Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2019-06-20T17:06:29Z
dc.date.issued2019-06
dc.identifier.citationO’Malley, Heather A.; Hull, Jacob M.; Clawson, Brittany C.; Chen, Chunling; Owens‐fiestan, Gic ; Jameson, Margaret B.; Aton, Sara J.; Parent, Jack M.; Isom, Lori L. (2019). "Scn1b deletion in adult mice results in seizures and SUDEP." Annals of Clinical and Translational Neurology 6(6): 1121-1126.
dc.identifier.issn2328-9503
dc.identifier.issn2328-9503
dc.identifier.urihttps://hdl.handle.net/2027.42/149575
dc.description.abstractPathogenic lossâ ofâ function variants in SCN1B are linked to Dravet syndrome (DS). Previous work suggested that neuronal pathfinding defects underlie epileptogenesis and SUDEP in the Scn1b null mouse model of DS. We tested this hypothesis by inducing Scn1b deletion in adult mice that had developed normally. Epilepsy and SUDEP, which occur by postnatal day 21 in Scn1b null animals, were observed within 20 days of induced Scn1b deletion in adult mice, suggesting that epileptogenesis in SCN1Bâ DS does not result from defective brain development. Thus, the developmental brain defects observed previously in Scn1b null mice may model other coâ morbidities of DS.
dc.publisherWiley Periodicals, Inc.
dc.titleScn1b deletion in adult mice results in seizures and SUDEP
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelNeurology and Neurosciences
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/149575/1/acn3785.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/149575/2/acn3785_am.pdf
dc.identifier.doi10.1002/acn3.785
dc.identifier.sourceAnnals of Clinical and Translational Neurology
dc.identifier.citedreferenceRamadan W, Patel N, Anazi S, et al. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. Clin Genet 2017; 92 ( 3 ): 327 - 331. https://doi.org/10.1111/cge.12999.
dc.identifier.citedreferenceChen C, Westenbroek RE, Xu X, et al. Mice lacking sodium channel β1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci 2004; 24: 4030 - 4042.
dc.identifier.citedreferenceChen C, Dickendesher TL, Oyama F, et al. Floxed allele for conditional inactivation of the voltageâ gated sodium channel β1 subunit Scn1b. Genesis 2007; 45: 547 - 553.
dc.identifier.citedreferenceLal D, Ruppert AK, Trucks H, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet 2015; 11: e1005226.
dc.identifier.citedreferenceBrackenbury WJ, Yuan Y, O’Malley HA, et al. Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b â null mice and precedes hyperexcitability. Proc Natl Acad Sci USA 2013; 110: 1089 - 1094.
dc.identifier.citedreferenceO’Malley HA, Isom LL. Sodium channel β subunits: emerging targets in channelopathies. Annu Rev Physiol 2015; 77: 481 - 504.
dc.identifier.citedreferenceHull JM, Isom LL. Voltageâ gated sodium channel β subunits: the power outside the pore in brain development and disease. Neuropharmacology. 2018; 132: 43 - 57. https://doi.org/10.1016/j.neuropharm.2017.09.018.
dc.identifier.citedreferenceSteel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia 2017; 58: 1807 - 1816.
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 â 1149.
dc.identifier.citedreferencePatino GA, Claes LR, Lopezâ Santiago LF, et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29: 10764 - 10778.
dc.identifier.citedreferenceOgiwara I, Iwasato T, Miyamoto H, et al. Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizureâ associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet. 2013; 22: 4784 â 4804.
dc.identifier.citedreferenceCheah CS, Yu FH, Westenbroek RE, et al. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc Natl Acad Sci USA 2012; 109: 14646 â 14651.
dc.identifier.citedreferenceHeimerâ McGinn V, Young P. Efficient inducible Panâ neuronal creâ mediated recombination in SLICKâ H transgenic mice. Genesis 2011; 49: 942 â 949.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Name:
acn3785.pdf
Size:
3.912MB
Format:
PDF
View/Open
Name:
acn3785_am.pdf
Size:
271.0KB
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.