Evidence map›Paper›PMID 31932179›Full record

ReviewEpilepsy & behavior : E&B2020

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.

Matthew S Gentry, Zaid Afawi, Dustin D Armstrong, Antonio Delgado-Escueta, Y Paul Goldberg, Tamar R Grossman, Joan J Guinovart, Frank Harris, Thomas D Hurley, Roberto Michelucci and 4 more

Open access · greenAbstract readReview
In one paragraph

Review in Epilepsy & behavior : E&B, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 7% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. 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
  5. Article
  6. Article
  7. Review
  8. A novel deletion mutation inNeurology Asia · 2021
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. 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

14 authors at 12 institutions in 5 countries.

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.
Zaid AfawiSackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, the Netherlands.
Dustin D ArmstrongValerion Therapeutics, Concord, MA 01742, USA.
Antonio Delgado-EscuetaLafora Epilepsy Cure Initiative (LECI), USA; Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, CA 90073, USA.
Y Paul GoldbergIonis Pharmaceuticals, Inc., Carlsbad, CA 92008, USA.
Tamar R GrossmanIonis Pharmaceuticals, Inc., Carlsbad, CA 92008, USA.
Joan J GuinovartLafora Epilepsy Cure Initiative (LECI), USA; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029 Madrid, Spain.
Frank HarrisLafora Epilepsy Cure Initiative (LECI), USA; Chelsea's Hope, PO Box 348626, Sacramento, CA 95834, USA.
Thomas D HurleyLafora Epilepsy Cure Initiative (LECI), USA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Roberto MichelucciLafora Epilepsy Cure Initiative (LECI), USA; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
Berge A MinassianLafora Epilepsy Cure Initiative (LECI), USA; Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA.
Pascual SanzLafora Epilepsy Cure Initiative (LECI), USA; Instituto de Biomedicina de Valencia (IBV-CSIC) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46010 Valencia, Spain.
Carolyn A WorbyLafora Epilepsy Cure Initiative (LECI), USA; Department of Pharmacology, University of California San Diego, La Jolla, CA 92093, USA.
Jose M SerratosaLafora Epilepsy Cure Initiative (LECI), USA; Laboratory of Neurology, IIS-Jimenez Diaz Foundation, UAM, 28045 Madrid, Spain; Biomedical Research Networking Center on Rare Diseases (CIBERER), 28029 Madrid, Spain.
Ionis Pharmaceuticals (United States) · USCentre for Biomedical Network Research on Rare Diseases · ESCentro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas · ESHospital Universitario Fundación Jiménez Díaz · ESIndiana University School of MedicineIstituto delle Scienze Neurologiche di Bologna · ITTel Aviv University · ILThe University of Texas Southwestern Medical Center · USUniversity of California, San Diego · USUniversity of Kentucky · USVA Greater Los Angeles Healthcare System · USValerion Therapeutics (United States) · 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
SMALL MOLECULE INHIBITION OF GLYCOGEN STORAGE AS THERAPY FOR GLYCOGENOSESR01DK027221 · NIDDK · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI HURLEY, THOMAS D. · 1986 to 2020
$4.4M
Regulation, Signaling, and Dynamics of Glucan PhosphatasesR01NS070899 · NINDS · UNIVERSITY OF KENTUCKY · PI GENTRY, MATTHEW S. · 2010 to 2019
$3.6M
Glycogen Metabolism and Lafora DiseaseR01NS056454 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI ROACH, PETER J · 2009 to 2018
$3.4M
Treatment of Lafora disease with an antibody-enzyme fusionR61NS111081 · NINDS · UNIVERSITY OF KENTUCKY · PI GENTRY, MATTHEW S., PAULY, JAMES R · 2020 to 2020
$383k
NIDDK NIH HHS R01 DK027221NINDS NIH HHS P01 NS097197NINDS NIH HHS R01 NS056454NINDS NIH HHS R01 NS070899NINDS NIH HHS R61 NS111081
6 · The paper itself

Abstract

Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.

Indexed as

InternationalityAnimalsCongresses as TopicEducationHumansLafora DiseaseMutationProtein Tyrosine Phosphatases, Non-ReceptorSpainEPM2A protein, humanProtein Tyrosine Phosphatases, Non-ReceptorGlycogenGlycogen storage diseaseLafora diseaseNeurodegenerationProgressive myoclonus epilepsy

Identifiers

PMID31932179
PMCPMC7024738
OpenAlexW2998992610

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.