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Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies
Open accessAbstract
Background and Objectives The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic spectrum. Currently, the rates of convulsive status epilepticus (CSE), nonconvulsive status epilepticus (NCSE), and sudden unexplained death in epilepsy (SUDEP) in these diseases are not well understood. We aimed to describe the proportions of patients with frequently observed genetic DEEs who developed CSE, NCSE, mortality, and SUDEP. Understanding the risks of these serious presentations in each genetic DEE will enable earlier diagnosis and appropriate management. Methods In this retrospective analysis of patients with a genetic DEE, we estimated the proportions with CSE, NCSE, and SUDEP and the overall and SUDEP-specific mortality rates for each genetic diagnosis. We included patients with a pathogenic variant in the genes SCN1A, SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1, and KCNQ2 and with Angelman syndrome (AS). Results The cohort comprised 510 individuals with a genetic DEE, in whom we observed CSE in 47% and NCSE in 19%. The highest proportion of CSE occurred in patients with SCN1A-associated DEEs, including 181/203 (89%; 95% CI 84–93) patients with Dravet syndrome and 8/15 (53%; 95% CI 27–79) non-Dravet SCN1A-DEEs. CSE was also notable in patients with pathogenic variants in KCNT1 (6/10; 60%; 95% CI 26–88) and SCN2A (8/15; 53%; 95% CI 27–79). NCSE was common in patients with non-Dravet SCN1A-DEEs (8/15; 53%; 95% CI 27–79) and was notable in patients with CHD2-DEEs (6/14; 43%; 95% CI 18–71) and AS (6/19; 32%; 95% CI 13–57). There were 42/510 (8%) deaths among the cohort, producing a mortality rate of 6.1 per 1,000 person-years (95% CI 4.4–8.3). Cases of SUDEP accounted for 19/42 (48%) deaths. Four genes were associated with SUDEP: SCN1A, SCN2A, SCN8A, and STXBP1. The estimated SUDEP rate was 2.8 per 1,000 person-years (95% CI 1.6–4.3). Discussion We showed that proportions of patients with CSE, NCSE, and SUDEP differ for commonly encountered genetic DEEs. The estimates for each genetic DEE studied will inform early diagnosis and management of status epilepticus and SUDEP and inform disease-specific counseling for patients and families in this high-risk group of conditions.
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“SUDEP rates for different genetic DEE syndromes have not been well defined, with the exception of Dravet syndrome, which has a Dravet-specific SUDEP rate of 4.4 in 1000 person-years (98% CI 2.3-7.8)19 , accounting for most of the Dravet-specific mortality.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [19]
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“Different genetic DEEs vary considerably in their SUDEP risk, which is increased in DEEs due to sodium channelopathies 19 .”
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“other causes include cerebral oedema following status epilepticus 18 , chest infections and accidental causes 19 .”
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“Different genetic DEEs have different risks of convulsive and non-convulsive status epilepticus and death 19 ; understanding these risks informs diagnosis, prognostic counselling and management strategies.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [19]
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Trinka, E., Cock, H., Hesdorffer, D., Rossetti, A. O., Scheffer, I. E., Shinnar, S., Shorvon, S., & Lowenstein, D. H. (2015) · Epilepsia · doi:10.1111/epi.13121 · Cited by 2,494
Self-citationRyvlin, P., Nashef, L. A. M., Lhatoo, S. D., Bateman, L. M., Bird, J., Bleasel, A., Boon, P., Crespel, A., Dworetzky, B. A., Høgenhaven, H., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70214-x · Cited by 1,137
Specchio, N., Wirrell, E. C., Scheffer, I. E., Nabbout, R., Riney, K., Samia, P., Guerreiro, M., Gwer, S., Zuberi, S. M., Wilmshurst, J. M., et al. (2022) · Epilepsia · doi:10.1111/epi.17241 · Cited by 998
Self-citationAngelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Unifying 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
The core Dravet syndrome phenotype
Dravet, C. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02994.x · Cited by 630
The genetic landscape of the epileptic encephalopathies of infancy and childhood
McTague, A., Howell, K. B., Cross, J. H., Kurian, M. A., & Scheffer, I. E. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00250-1 · Cited by 609
Self-citationChin, R., Neville, B. G. R., Peckham, C. S., Bedford, H. E., Wade, A. M., & Scott, R. C. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69043-0 · Cited by 595
Practice guideline summary: Sudden unexpected death in epilepsy incidence rates and risk factors
Harden, C. L., Tomson, T., Gloss, D. S., Buchhalter, J., Cross, J. H., Donner, E. J., French, J. A., Gil‐Nagel, A., Hesdorffer, D. C., Smithson, W. H., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000003685 · Cited by 583
Population-based study of the incidence of sudden unexplained death in epilepsy
Ficker, D. M., So, E. L., Shen, W. K., Annegers, J. F., O’Brien, P. C., Cascino, G. D., & BELAU, P. G. (1998) · Neurology · doi:10.1212/wnl.51.5.1270 · Cited by 459
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Research works printed but not linked: 1
- Micelli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E, Taglialatela M. KCNQ2-related disorders. In: Adam M, Pagon R, Ardinger H, eds. GeneReviews [online]. University of Washington; 2018. ncbi.nlm.nih.gov/books/.
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Developmental and epileptic encephalopathies
Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 158
Self-citationScheffer, I. E., French, J. A., Valente, K. D. R., Auvin, S., Cross, J. H., & Specchio, N. (2025) · Epilepsia · doi:10.1111/epi.18265 · Cited by 68
Self-citationMenon, R. N., & Cross, J. H. (2025) · The Lancet · doi:10.1016/s0140-6736(25)00773-1 · Cited by 40
Specchio, N., Trivisano, M., Aronica, E., Balestrini, S., Arzimanoglou, A. A., Colasante, G., Cross, J. H., Jóźwiak, S., Wilmshurst, J. M., Vigevano, F., et al. (2024) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(24)00196-2 · Cited by 37
Type, Etiology, and Duration of Epilepsy as Risk Factors for SUDEP
Sveinsson, O. A., Andersson, T., Carlsson, S., & Tomson, T. (2023) · Neurology · doi:10.1212/wnl.0000000000207921 · Cited by 29
Metadata
- Authors
- Donnan, A. M., Schneider, A. L., Russ-Hall, S., Churilov, L., & Scheffer, I. E.
- Affiliations
- Royal Children's Hospital (AU)
- Venue
- Neurology
- Published
- 2023-04-18
- Volume
- 100
- Issue
- 16
- Pages
- e1712-e1722
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC10115508
- OpenAlex
- W4319336842
- Cited by
- 97
- References
- 50
- Citations by year
- 2026: 30 · 2025: 28 · 2024: 27 · 2023: 12
- FWCI
- 19.67
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Epilepsiatutkimussäätiö
- Medical Research Council
- National Health and Medical Research Council
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Health Sciences › Medicine › Physiology (medical) › Diet and metabolism studies
- Keywords
- convulsive status epilepticus, nonconvulsive status epilepticus, Dravet syndrome, SCN1A, KCNT1, SCN2A, CHD2, Angelman syndrome, SUDEP risk factors, SUDEP prevention
- MeSH terms
- Epileptic Syndromes, Sudden Unexpected Death in Epilepsy, Potassium Channels, Sodium-Activated, Protocadherins, Death, Sudden, Epilepsies, Myoclonic, Humans, Nerve Tissue Proteins, Retrospective Studies, Status Epilepticus, Angelman Syndrome
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