Scn1b deletion in adult mice results in seizures and SUDEP
dc.contributor.author | O’Malley, Heather A. | |
dc.contributor.author | Hull, Jacob M. | |
dc.contributor.author | Clawson, Brittany C. | |
dc.contributor.author | Chen, Chunling | |
dc.contributor.author | Owens‐fiestan, Gic | |
dc.contributor.author | Jameson, Margaret B. | |
dc.contributor.author | Aton, Sara J. | |
dc.contributor.author | Parent, Jack M. | |
dc.contributor.author | Isom, Lori L. | |
dc.date.accessioned | 2019-06-20T17:06:29Z | |
dc.date.available | WITHHELD_13_MONTHS | |
dc.date.available | 2019-06-20T17:06:29Z | |
dc.date.issued | 2019-06 | |
dc.identifier.citation | O’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.issn | 2328-9503 | |
dc.identifier.issn | 2328-9503 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/149575 | |
dc.description.abstract | Pathogenic 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 20Â 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.publisher | Wiley Periodicals, Inc. | |
dc.title | Scn1b deletion in adult mice results in seizures and SUDEP | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Neurology and Neurosciences | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/149575/1/acn3785.pdf | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/149575/2/acn3785_am.pdf | |
dc.identifier.doi | 10.1002/acn3.785 | |
dc.identifier.source | Annals of Clinical and Translational Neurology | |
dc.identifier.citedreference | Ramadan 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.citedreference | Chen 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.citedreference | Chen 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.citedreference | Lal 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.citedreference | Brackenbury 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.citedreference | O’Malley HA, Isom LL. Sodium channel β subunits: emerging targets in channelopathies. Annu Rev Physiol 2015; 77: 481 - 504. | |
dc.identifier.citedreference | Hull 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.citedreference | Steel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia 2017; 58: 1807 - 1816. | |
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 â 1149. | |
dc.identifier.citedreference | Patino 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.citedreference | Ogiwara 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.citedreference | Cheah 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.citedreference | Heimerâ McGinn V, Young P. Efficient inducible Panâ neuronal creâ mediated recombination in SLICKâ H transgenic mice. Genesis 2011; 49: 942 â 949. | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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