Evidence map›Paper›PMID 39096015›Full record

ArticleAnnals of neurology2024

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Amy J LaCroix, Jayne Antony, Richard Webster, Michael Cardamone and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
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

10 citing papers in PubMed.

  1. Review
  2. Review
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  4. Review
  5. Review
  6. Observational
  7. Review
  8. Article
  9. Article
  10. Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Sindhu ViswanathanEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.ORCID 0009-0002-7993-5214
Karen L OliverEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.ORCID 0000-0001-5188-6153
Brigid M ReganEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
Amy L SchneiderEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
Candace T MyersDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Michele G MehaffeyDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Amy J LaCroixDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Jayne AntonyT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Richard WebsterT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Michael CardamoneDepartment of Paediatric Neurology, Sydney Children's Hospital, Randwick; School of Clinical Medicine, UNSW Sydney, Sydney, Australia.
Gopinath M SubramanianDepartment of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, Australia.
Annie T G ChiuEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.ORCID 0000-0003-0249-9725
Eugenia RozaFaculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.
Raluca I TeleanuFaculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.
Stephen MaloneCentre for Advanced Imaging, University of Queensland, St Lucia, Australia.
Richard J LeventerDepartment of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.ORCID 0000-0003-0362-5607
Deepak GillT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.ORCID 0000-0003-4580-841X
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
Beatrice S GoadDepartment of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
Katherine B HowellDepartment of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.ORCID 0000-0002-5469-8411
Joseph D SymondsSchool of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Andreas BrunklausSchool of Health and Wellbeing, University of Glasgow, Glasgow, UK.ORCID 0000-0002-7728-6903
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand.
Sameer M ZuberiSchool of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Heather C MeffordDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.ORCID 0000-0002-2311-2174

Funding

A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9M
Cure Kids New ZealandHealth Research Council of New ZealandNational Health and Medical Research Council 2019/GNT1172897National Health and Medical Research Council 2021/GNT2006841National Health and Medical Research Council GNT1091593National Health and Medical Research Council GNT1196637NIH HHS R01NS069605NINDS NIH HHS R01 NS069605
6 · The paper itself

Abstract

objectiveTo understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS).

methodsAll patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101). Detailed phenotyping and analysis of molecular genetic results were performed. We compared the phenotypic features of individuals with DEE-SWAS and EE-SWAS. Brain-specific gene co-expression analysis was performed for D/EE-SWAS genes.

resultsWe identified the etiology in 42/91 (46%) patients in our Core cohort, including 29/44 (66%) with DEE-SWAS and 13/47 (28%) with EE-SWAS. A genetic etiology was identified in 31/91 (34%). D/EE-SWAS genes were highly co-expressed in brain, highlighting the importance of channelopathies and transcriptional regulators. Structural etiologies were found in 12/91 (13%) individuals. We identified 10 novel D/EE-SWAS genes with a range of functions: ATP1A2, CACNA1A, FOXP1, GRIN1, KCNMA1, KCNQ3, PPFIA3, PUF60, SETD1B, and ZBTB18, and 2 novel copy number variants, 17p11.2 duplication and 5q22 deletion. Although developmental regression patterns were similar in both syndromes, DEE-SWAS was associated with a longer duration of epilepsy and poorer intellectual outcome than EE-SWAS.

interpretationDEE-SWAS and EE-SWAS have highly heterogeneous genetic and structural etiologies. Phenotypic analysis highlights valuable clinical differences between DEE-SWAS and EE-SWAS which inform clinical care and prognostic counseling. Our etiological findings pave the way for the development of precision therapies. ANN NEUROL 2024;96:932-943.

Indexed as

Spasms, InfantileAdolescentAdultChildChild, PreschoolCohort StudiesElectroencephalographyFemaleHumansInfantMalePhenotypeSleepYoung Adult

Identifiers

PMID39096015
PMCPMC11496008

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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.