Cited by 97Epilepsy research and treatmentPharmacological Effects and Toxicity StudiesDiet and metabolism studies

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Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

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Donnan, Alice M., Schneider, Amy L., Russ-Hall, Sophie, Churilov, Leonid, Scheffer, Ingrid E.·2023·Neurology

DOI 10.1212/wnl.0000000000207080PMC PMC10115508

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Abstract

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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Authors: Donnan, A. M., Schneider, A. L., Russ-Hall, S., Churilov, L., & Scheffer, I. E.
Affiliations: Royal Children's Hospital (AU)
ORCID: Donnan, Alice M.
Schneider, Amy L.
Russ-Hall, Sophie
Churilov, Leonid
Scheffer, Ingrid E.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2023-04-18
Volume: 100
Issue: 16
Pages: e1712-e1722
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.0000000000207080
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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Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

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