Evidence map›Paper›PMID 40876194›Full record

ArticleEpilepsy & behavior : E&B2025

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.

Meredith I Williams, Katherine J Donohue, Pascual Sanz, Souad Messahel, Jose M Serratosa, Jordi Duran, Roberto Michelucci, Lorenzo Muccioli, Antonio Delgado-Escueta, Viet-Huong V Nguyen and 2 more

Abstract readConference Proceedings
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsy & behavior : E&B, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  2. 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

12 authors.

Meredith I WilliamsChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Department of Cellular and Molecular Biology, Baylor College of Medicine, 1 Baylor Plz, Houston, TX 77030 USA.
Katherine J DonohueChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA.
Pascual SanzChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Instituto de Biomedicina de Valencia (CSIC), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Jaime Roig 11, 46010 Valencia, Spain; Lafora Epilepsy Cure Initiative (LECI), USA.
Souad MessahelChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Elpida Therapeutics, 16501 Ventura Blvd., Suite 400, Encino, CA 91436, USA.
Jose M SerratosaChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Lafora Epilepsy Cure Initiative (LECI), USA; Department of Neurology, Fundación Jiménez Díaz University Hospital and Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Jordi DuranChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Lafora Epilepsy Cure Initiative (LECI), USA; Department of Neurology, Fundación Jiménez Díaz University Hospital and Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain; Institut Químic de Sarrià (IQS), Universitat Ramon Llull (URL), 08017 Barcelona, Spain; Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain.
Roberto MichelucciChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; IRCCS Istituto delle Scienze Neurologiche di Bologna (ISNB), (Full member of ERN EpiCARE), Padiglione G, Via Altura, 3, 40139 Bologna BO, Italy.
Lorenzo MuccioliIRCCS Istituto delle Scienze Neurologiche di Bologna (ISNB), (Full member of ERN EpiCARE), Padiglione G, Via Altura, 3, 40139 Bologna BO, Italy.
Antonio Delgado-EscuetaChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Lafora Epilepsy Cure Initiative (LECI), USA; David Geffen School of Medicine, University of California, 10833 Le Conte Ave, Los Angeles, CA 90095, USA.
Viet-Huong V NguyenChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Chapman University, School of Pharmacy, 9401 Jeronimo Rd, Irvine, CA 92618, USA.
Berge A MinassianChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Lafora Epilepsy Cure Initiative (LECI), USA; Division of Child Neurology, University of Texas Southwestern, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Matthew S GentryChelsea's Hope Lafora Children Research Fund, 976 Maywick Dr. Lexington, KY 40504, USA; Lafora Epilepsy Cure Initiative (LECI), USA; Department of Biochemistry & Molecular Biology, College of Medicine, University of Florida, PO Box 100245, Gainesville, FL 32610, USA.

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
Regulation, Signaling, and Dynamics of Glucan PhosphatasesR01NS070899 · NINDS · UNIVERSITY OF KENTUCKY · PI GENTRY, MATTHEW S. · 2010 to 2019
$3.6M
NINDS NIH HHS P01 NS097197NINDS NIH HHS R01 NS070899NINDS NIH HHS R35 NS116824
6 · The paper itself

Abstract

Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming clinical trials.

Indexed as

Lafora DiseaseHumansProtein Tyrosine Phosphatases, Non-ReceptorProtein Tyrosine Phosphatases, Non-ReceptorChildhood dementiaGlycogenGlycogen storage diseaseLafora diseaseProgressive myoclonus epilepsy

Identifiers

PMID40876194
PMCPMC12871068

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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.