Evidence map›Paper›PMID 36750385›Full record

ArticleNeurology2023

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

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

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 4 pooled it
25.0field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 4 syntheses or guidelines pooled it, 80 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Alice M DonnanFrom the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia.ORCID 0000-0003-1745-7982
Amy L SchneiderFrom the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia.
Sophie Russ-HallFrom the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia.
Leonid ChurilovFrom the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia.
Ingrid E SchefferFrom the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia. i.scheffer@unimelb.edu.au.ORCID 0000-0002-2311-2174
Royal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesThe 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.

methodsIn 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

resultsThe 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 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.

Indexed as

Angelman SyndromeEpilepsies, MyoclonicEpileptic SyndromesStatus EpilepticusSudden Unexpected Death in EpilepsyDeath, SuddenHumansNerve Tissue ProteinsPotassium Channels, Sodium-ActivatedProtocadherinsRetrospective StudiesKCNT1 protein, humanNerve Tissue ProteinsPCDH19 protein, humanPotassium Channels, Sodium-ActivatedProtocadherins

Identifiers

PMID36750385
PMCPMC10115508
OpenAlexW4319336842

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.