Evidence map›Paper›PMID 40034086›Full record

ArticleEpilepsia2025

Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

Arunan Selvarajah, Andrea Sabo, Carolina Gorodetsky, Paula T Marques, Ilakkiah Chandran, Miles Thompson, Quratulain Zulfiqar Ali, Mary Pat McAndrews, Maria Carmela Tartaglia, Victor S T Lira and 30 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsia, 2025. 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.

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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

40 authors.

Arunan SelvarajahAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-6712-3940
Andrea SaboKite Research Institute, University Health Network, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-8921-9089
Carolina GorodetskyDivision of Neurology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-0007-9591
Paula T MarquesAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-1303-9273
Ilakkiah ChandranAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-9576-9001
Miles ThompsonAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0001-7114-1554
Quratulain Zulfiqar AliInstitute of Medical Sciences, University of Toronto, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-3984-5276
Mary Pat McAndrewsDivision of Brain, Imaging, & Behaviour, Department of Neuropsychology, Krembil Neurosciences Institute, University of Toronto, University Health Network, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-2287-5145
Maria Carmela TartagliaDivision of Neurology, Department of Medicine, Toronto Western Hospital Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-5944-8497
Victor S T LiraAdult Genetic Epilepsy Program, Division of Neurology, Krembil Neurosciences Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-0236-4361
Linda HuhDivision of Neurology, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Mary ConnollyDivision of Neurology, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Arezoo RezazadehDivision of Neurology, Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.ORCID https://orcid.org/0009-0007-7101-2948
Farah QaiserInstitute of Medical Sciences, University of Toronto, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-1050-2533
Tadeu A FantaneanuDivision of Neurology, Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.ORCID https://orcid.org/0000-0003-4218-068X
Monica DuongAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Karen BarbozaAdult Genetic Epilepsy Program, Division of Neurology, Krembil Neurosciences Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-1126-0409
Lysa Boissé LomaxDivision of Neurology, Kingston General Hospital, University of Kingston, Kingston, Ontario, Canada.
Luciana Inuzuka NakaharadaSão Paulo Integrated Neurology Institute, São Paulo, Brazil.ORCID https://orcid.org/0000-0001-6840-5918
Kette ValentePediatric Neurology, Hospital das Clínicas, Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0002-5008-0809
Jack ArbinuchDavid and Judi Proctor Department of Mathematics, University of Oklahoma, Norman, Oklahoma, USA.
Mariana EspindolaSão Paulo Instituto de Neurologia, São Paulo, Brazil.
Eliana GarzonInstituto de Neurologia Integrada de São Paulo, São Paulo, Brazil.
Gianluca SorrentoEdmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, UHN, Toronto, Ontario, Canada.
Mary Anne MeskisDravet Syndrome Foundation, Cherry Hill, New Jersey, USA.
Nicole VillasDravet Syndrome Foundation, Cherry Hill, New Jersey, USA.ORCID https://orcid.org/0000-0001-8446-1047
Veronica HoodDravet Syndrome Foundation, Cherry Hill, New Jersey, USA.ORCID https://orcid.org/0000-0002-1988-4980
Marta GonzalezDravet Syndrome Foundation, Madrid, Spain.
Elena Cardenal-MuñozDravet Syndrome Foundation, Madrid, Spain.ORCID https://orcid.org/0000-0003-4757-9323
Jose Angel AibaDravet Syndrome Foundation, Madrid, Spain.ORCID https://orcid.org/0000-0001-7779-7626
Lauraine McKennaDravet Syndrome Foundation, Madrid, Spain.
Christine LinehanSchool of Psychology, University College Dublin, Dublin, Ireland.ORCID https://orcid.org/0000-0002-9083-3457
Sophine HohnCognition and Behaviour Department, Institut des Neurosciences Paris-Saclay, Gif-sur-Yvette, France.ORCID https://orcid.org/0000-0003-2668-2428
Stéphane AuvinDepartment of Pediatric Neurology, Hôpital Robert Debré, Université de Paris, Paris, France.ORCID https://orcid.org/0000-0003-3874-9749
Orrin DevinskyDivision of Neurology, New York University Langone Epilepsy Center, New York, New York, USA.ORCID https://orcid.org/0000-0003-0044-4632
Ryan YuenDepartment of Molecular Genetics, Genetics & Genome Biology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0001-7273-4968
Anne T BergDepartment of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-0298-5523
Babak TaatiKite Research Institute, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Alfonso FasanoEdmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Centre, Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0001-5346-0180
Danielle M AndradeAdult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0003-0953-2698

Funding

Dravet Syndrome Foundation
6 · The paper itself

Abstract

objectiveDravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs).

methodsThis cross-sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior analyses and Moss-Psychiatric Assessment Schedules checklist to screen for psychiatric symptoms. The Social Communication Questionnaire screened for social communication deficits. Parkinsonian features were evaluated with the modified Unified Parkinson's Disease Rating Scale. For gait evaluation, we validated the use of home videos, using instrumental gait analysis in a subgroup of patients, and then used the home videos for the remainder.

resultsA total of 92 patients were enrolled (age range = 18-51 years, mean = 27.93 ± 8.59 years). Sixty percent of caregivers observed a decline in previously acquired skills, including intelligence, speech, interaction with others, ability to climb stairs and walk without support, and hand coordination. Adaptive skills, parkinsonian symptoms, and gait were worse in older patients and those exposed to SCBs for longer periods of time. Fourteen percent of patients screened positive for affective disorders, 11.6% for dementia, and 10.5% for a psychotic disorder. Fifty-three percent screened positive for social communication deficits. SIGNIFICANCE: This is the largest group of adults with DS to be systematically evaluated. They had severe nonseizure symptoms. Older age and longer use of SCBs were associated with worse adaptive skills, gait, and parkinsonism. Some older adults screened positive for depression and dementia. Caregivers identified functional decline in activities of daily living (ADLs). Taken together, the risk of dementia, parkinsonian gait, and decline in ability to perform previously mastered ADLs support that some adults with DS may be developing a neurodegenerative disorder.

Indexed as

Epilepsies, MyoclonicNeurodegenerative DiseasesNeurodevelopmental DisordersAdolescentAdultCaregiversCross-Sectional StudiesFemaleHumansMaleMiddle AgedNAV1.1 Voltage-Gated Sodium ChannelYoung AdultNAV1.1 Voltage-Gated Sodium ChannelAccelerated ageingadultdementiaDravet syndromenatural historyNeurodegenerationparkinsonismSCN1ASodium channel blockers

Identifiers

PMID40034086
PMCPMC12169394

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.