Evidence map›Paper›PMID 28264719›Full record

ArticleOrphanet journal of rare diseases2017

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.

Martje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, Jan Willem J Elting, Jeannette M Gelauff, Rodi Zutt, Deborah A Sival, Roald A Lambrechts, Marina A J Tijssen, Oebele F Brouwer and 1 more

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

Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 3 syntheses or guidelines pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Compound Heterozygous Variants ofNeurology. Genetics · 2024
    Article
  5. Article
  6. ILAE Genetics Literacy series: Progressive myoclonus epilepsies.Epileptic disorders : international epilepsy journal with videotape · 2023
    Review
  7. Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021
    Review
  8. Review
  9. Emerging treatments for progressive myoclonus epilepsies.Expert review of neurotherapeutics · 2020
    Review
  10. 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

11 authors at 2 institutions in 1 country.

Martje E van EgmondDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Amerins WeijenbergDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Margreet E van RijnDepartment of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Jan Willem J EltingDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Jeannette M GelauffDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Rodi ZuttDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Deborah A SivalDepartment of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Roald A LambrechtsDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Marina A J TijssenDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Oebele F BrouwerDepartment of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Tom J de KoningDepartment of Paediatrics, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands. t.j.de.koning@umcg.nl.
University of Groningen · NLUniversity Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNorth Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy.

resultsFour North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients.

conclusionsThis observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.

Indexed as

Diet, High-Protein Low-CarbohydrateAdolescentChildElectroencephalographyHumansMaleMyoclonic Epilepsies, ProgressiveTreatment OutcomeYoung AdultEpilepsyGOSR2 geneKetogenic dietModified Atkins dietMyoclonusNorth Sea Progressive Myoclonus EpilepsyQuality of lifeTreatment

Identifiers

PMID28264719
PMCPMC5340041
OpenAlexW2593455127

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.