Evidence map›Paper›PMID 33946009›Full record

ReviewEpilepsy & behavior : E&B2021

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.

Kia H Markussen, Jessica K A Macedo, María Machío, Alison Dolce, Y Paul Goldberg, Craig W Vander Kooi, Matthew S Gentry

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

Review in Epilepsy & behavior : E&B, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% 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, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. The multifaceted roles of the brain glycogen.Journal of neurochemistry · 2024
    Review
  6. Review
  7. Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023
    Article
  8. Review
  9. Article
  10. Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022
    Article
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

7 authors at 4 institutions in 4 countries.

Kia H MarkussenDepartment of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA. Electronic address: kia.markussen@uky.edu.
Jessica K A MacedoDepartment of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
María MachíoFundación Jimenez Diaz Hospital, UAM, 28045 Madrid, Spain.
Alison DolceDivision of Neurology, Department of Pediatrics, University of Texas-Southwestern, Dallas, TX 75390, USA.
Y Paul GoldbergDepartment of Clinical Development, Ionis Pharmaceuticals, Carlsbad, CA, 92008 USA.
Craig W Vander KooiDepartment of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Lafora Epilepsy Cure Initiative (LECI), USA.
Matthew S GentryDepartment of Molecular and Cellular Biochemistry, Epilepsy and Brain Metabolism Alliance, and Epilepsy Research Center, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Lafora Epilepsy Cure Initiative (LECI), USA. Electronic address: matthew.gentry@uky.edu.
University of Kentucky · USHospital Universitario Fundación Jiménez Díaz · ESIonis Pharmaceuticals (United States) · USThe University of Texas Southwestern Medical Center · US

Funding

Suppressing glycogen storage with small molecule inhibitors as a therapeutic approach to Lafora DiseaseP01NS097197 · NINDS · UNIVERSITY OF KENTUCKY · PI GAO, TIANYAN · 2016 to 2021
$9.0M
Brain Glycogen-Metabolism,Mechanisms, and Therapeutic PotentialR35NS116824 · NINDS · UNIVERSITY OF KENTUCKY · PI Matthew S. Gentry · 2020 to 2026
$8.2M
Interdisciplinary Research Training in Cancer BiologyT32CA165990 · NCI · UNIVERSITY OF KENTUCKY · PI Bernard Mark Evers, KATHLEEN L. O'CONNOR · 2013 to 2026
$3.2M
Treatment of Lafora disease with an antibody-enzyme fusionR61NS111081 · NINDS · UNIVERSITY OF KENTUCKY · PI GENTRY, MATTHEW S., PAULY, JAMES R · 2020 to 2020
$383k
NCI NIH HHS T32 CA165990NINDS NIH HHS P01 NS097197NINDS NIH HHS R35 NS116824NINDS NIH HHS R61 NS111081
6 · The paper itself

Abstract

Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) are both a hallmark and driver of the disease. The 6

Indexed as

Lafora DiseaseProtein Tyrosine Phosphatases, Non-ReceptorChildHumansMutationProtein Tyrosine Phosphatases, Non-ReceptorAnti-sense oligonucleotideChildhood dementiaEpilepsyGlycogenGlycogen storage diseaseLafora disease

Identifiers

PMID33946009
PMCPMC8154720
OpenAlexW3157800937

What OpenQuestion holds

Textmetadata
LicenceTDM
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.