The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Sudden unexpected death in a mouse model of Dravet syndrome
Open accessAbstract
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to SUDEP are unknown. Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1. We studied the mechanism of premature death in Scn1a heterozygous KO mice and conditional brain- and cardiac-specific KOs. Video monitoring demonstrated that SUDEP occurred immediately following generalized tonic-clonic seizures. A history of multiple seizures was a strong risk factor for SUDEP. Combined video-electroencephalography-electrocardiography revealed suppressed interictal resting heart-rate variability and episodes of ictal bradycardia associated with the tonic phases of generalized tonic-clonic seizures. Prolonged atropine-sensitive ictal bradycardia preceded SUDEP. Similar studies in conditional KO mice demonstrated that brain, but not cardiac, KO of Scn1a produced cardiac and SUDEP phenotypes similar to those found in DS mice. Atropine or N-methyl scopolamine treatment reduced the incidence of ictal bradycardia and SUDEP in DS mice. These findings suggest that SUDEP is caused by apparent parasympathetic hyperactivity immediately following tonic-clonic seizures in DS mice, which leads to lethal bradycardia and electrical dysfunction of the ventricle. These results have important implications for prevention of SUDEP in DS patients.
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Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., & Catterall, W. A. (2006) · Nature Neuroscience · doi:10.1038/nn1754 · Cited by 1,173
Self-citationUnifying the definitions of sudden unexpected death in epilepsy
Nashef, L., So, E. L., Ryvlin, P., & Tomson, T. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2011.03358.x · Cited by 632 · cited 1×
“Status epilepticus, defined as a single seizure or series of recurring seizures lasting more than 30 minutes (26), is an exclusion criterion for the definition of SUDEP in patients (27, 28).”
BackgroundCatterall, W. A., Kalume, F., & Oakley, J. C. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.187484 · Cited by 428
Self-citationCheah, C. S., Yu, F. H., Westenbroek, R. E., Kalume, F. K., Oakley, J. C., Potter, G. B., Rubenstein, J. L., & Catterall, W. A. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211591109 · Cited by 336 · cited 4×
“(25), and heterozygous F/+:MCre+ mice in which NaV1.”
BackgroundInfluentialSelf-citationDravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Catarino, C. B., Liu, J. Y. W., Liagkouras, I., Gibbons, V. S., Labrum, R. W., Ellis, R., Woodward, C., Davis, M. B., Smith, S. J., Cross, J. H., et al. (2011) · Brain · doi:10.1093/brain/awr129 · Cited by 227
Skluzacek, J. V., Watts, K. P., Parsy, O., Wical, B., & Camfield, P. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03012.x · Cited by 170
Insights into pathophysiology and therapy from a mouse model of Dravet syndrome
Oakley, J. C., Kalume, F., & Catterall, W. A. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03004.x · Cited by 68
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Cited by
Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention
Devinsky, O., Hesdorffer, D. C., Thurman, D. J., Lhatoo, S., & Richerson, G. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30158-2 · Cited by 721
Aiba, I., & Noebels, J. L. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa4050 · Cited by 334
Cooper, M. S., Mcintosh, A., Crompton, D. E., McMahon, J. M., Schneider, A., Farrell, K., Ganesan, V., Gill, D., Kivity, S., Lerman-Sagie, T., et al. (2016) · Epilepsy Research · doi:10.1016/j.eplepsyres.2016.10.006 · Cited by 316
SCN1A‐related phenotypes: Epilepsy and beyond
Scheffer, I. E., & Nabbout, R. (2019) · Epilepsia · doi:10.1111/epi.16386 · Cited by 245
Dravet syndrome: Characteristics, comorbidities, and caregiver concerns
Villas, N., Meskis, M. A., & Goodliffe, S. (2017) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2017.06.031 · Cited by 184
Metadata
- Authors
- Kalume, F., Westenbroek, R. E., Cheah, C. S., Yu, F. H., Oakley, J. C., Scheuer, T., & Catterall, W. A.
- Venue
- Journal of Clinical Investigation
- Published
- 2013-03-25
- Volume
- 123
- Issue
- 4
- Pages
- 1798-1808
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2167285873
- Cited by
- 282
- References
- 7
- FWCI
- 15.95
- Type
- journal article
- Language
- en
- Open access
- green
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- Kalume, F., Westenbroek, R. E., Cheah, C. S., Yu, F. H., Oakley, J. C., Scheuer, T., & Catterall, W. A. (2013). Sudden unexpected death in a mouse model of Dravet syndrome. Journal of Clinical Investigation. https://doi.org/10.1172/jci66220
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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