When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease.

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation.

Progressive Myoclonic Epilepsies - A Pragmatic Review.

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report.

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice.

The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.

An astrocytic cellular model of Lafora disease to study polyglucosan accumulation and inflammation.

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

Lafora disease (NHLRC1) associated with multiple malformations of cortical development: A clinical vignette.

Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes.

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis.

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

Eyelid myoclonia in Lafora disease: Diagnostic and clinical challenges.

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

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.

Sleep and Awake EEG Findings in a Patient With Lafora Disease: From Presymptomatic to Overt Disease Stage.

Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient.

European Respiratory Society and European Sleep Research Society statement on the treatment of central sleep apnoea with adaptive servo-ventilation.

Improving the transition from pediatric to adult epilepsy care: An expert opinion.

Identification of Plasma Growth Factors and Cytokines as Diagnostic Biomarkers for the Lafora Form of Progressive Myoclonus Epilepsy.

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.

Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets.

[Progressive Myoclonus Epilepsy: Diversity of Disorders and Key Points in Clinical Practice].

Lithium exacerbates Lafora body formation in the Epm2a-/- Lafora disease mouse model.

Discovery and Evaluation of Active Site-Directed, Potent, and Selective Sulfophenyl Acetic Amide-Based Inhibitors for the Laforin Phosphatase.

Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease.

Glial Alterations in the Glutamatergic and GABAergic Signalling Pathways in a Mouse Model of Lafora Disease, a Severe Form of Progressive Myoclonus Epilepsy.

Brain Glycogen-Its Metabolic Role in Neuronal Health and Neurological Disorders-An Extensive Narrative Review.

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity.

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.

Lafora Disease Presenting with Ataxia and DM1: A Case Study.

Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred.

VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Glial alterations in the glutamatergic and GABAergic signaling pathways in a mouse model of Lafora disease, a severe form of progressive myoclonus epilepsy.

Neuromuscular junction dysfunction in Lafora disease.

Neurological glycogen storage diseases and emerging therapeutics.

Glycogen metabolism and structure: A review.

Incidence and characterization of polyglucosan bodies in the cerebella of montserrat orioles (Icterus oberi).

Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.

Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves.

Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior.

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Gene therapy for Lafora disease in the Epm2a-/- mouse model.

Impaired malin expression and interaction with partner proteins in Lafora disease.

1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease.

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism.

[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].

Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease.

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.

Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice.

Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.

Clinical Signs in 166 Beagles with Different Genotypes of Lafora.

Gene replacement therapy for Lafora disease in the Epm2a -/- mouse model.

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?

Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes.

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

The multifaceted roles of the brain glycogen.

Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.

Retinal Phenotyping of a Murine Model of Lafora Disease.

Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.

Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model.

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.

Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.

Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress.

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.

Glial Contributions to Lafora Disease: A Systematic Review.

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy.

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.

[Lafora disease with a fatal outcome].

Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.

Electro-clinical features and management of the late stage of Lafora disease.

Molecular architecture of the glycogen- committed PP1/PTG holoenzyme.

A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.

Lafora Body Epilepsy: A Challenging Diagnosis.

Lafora disease: a case report.

[Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy].

Tauopathy and Epilepsy Comorbidities and Underlying Mechanisms.

A New Finding of Catatonia as Part of Lafora Disease: A Case Report.

Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model.

Malin restoration as proof of concept for gene therapy for Lafora disease.

Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling.

Trehalose Treatment in Zebrafish Model of Lafora Disease.

Utilization of skin biopsy for diagnosis in a case of Lafora disease.

FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease.

Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.

Two Diseases-One Preclinical Treatment Targeting Glycogen Synthesis.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

The second family affected with a PRDM8-related disease.

Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

From corpora amylacea to wasteosomes: History and perspectives.

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

A retrospective case series of clinical signs in 28 Beagles with Lafora disease.

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Canine Lafora Disease: An Unstable Repeat Expansion Disorder.

Lafora disease: Current biology and therapeutic approaches.

NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.

Retinal alterations in patients with Lafora disease.

EPM2A in-frame deletion slows neurological decline in Lafora Disease.

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.

Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

A novel gene therapy for neurodegenerative Lafora disease via EPM2A-loaded DLinDMA lipoplexes.

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

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing.

Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature.

Generation and characterization of a laforin nanobody inhibitor.

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease.

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Dexamethasone-induced activation of heat shock response ameliorates seizure susceptibility and neuroinflammation in mouse models of Lafora disease.

Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease.

Modulators of Neuroinflammation Have a Beneficial Effect in a Lafora Disease Mouse Model.

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.

Lafora body disease: a case of progressive myoclonic epilepsy.

Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.

[A case of the successful treatment of severe myoclonus with Lance-Adams syndrome by add-on perampanel showing long term effects].

Ketogenic diet reduces Lafora bodies in murine Lafora disease.

Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive.

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.

EEG Patterns Orienting to Lafora Disease Diagnosis-A Case Report in Two Beagles.

Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.

The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families.

Trehalose Ameliorates Seizure Susceptibility in Lafora Disease Mouse Models by Suppressing Neuroinflammation and Endoplasmic Reticulum Stress.

Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.

[Lafora disease in a Beagle - diagnosis and therapy].

Interrater agreement of classification of photoparoxysmal electroencephalographic response.

Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.

Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.

Dendritic spine abnormalities correlate with behavioral and cognitive deficits in mouse models of Lafora disease.

Cannabidiol-Enriched Extract Reduced the Cognitive Impairment but Not the Epileptic Seizures in a Lafora Disease Animal Model.

Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis.

Polyglucosan body structure in Lafora disease.

Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.

Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease.

A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.

Early Parkinsonism in a Senegalese girl with Lafora disease.

Pathologic Confirmation of Lafora Disease.

Lafora Disease: Report of a Rare Entity.

Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase.

Standing by the Bystander.

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

Accurate and sensitive quantitation of glucose and glucose phosphates derived from storage carbohydrates by mass spectrometry.

FDG-PET assessment and metabolic patterns in Lafora disease.

Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age.

Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.

Glycogen in Astrocytes and Neurons: Physiological and Pathological Aspects.

Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future.

Major Advances in Brain Glycogen Research: Understanding of the Roles of Glycogen Have Evolved from Emergency Fuel Reserve to Dynamic, Regulated Participant in Diverse Brain Functions.

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.

Nuclear Glycogenolysis Modulates Histone Acetylation in Human Non-Small Cell Lung Cancers.

Antibody-Mediated Enzyme Therapeutics and Applications in Glycogen Storage Diseases.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Super refractory status epilepticus in Lafora disease interrupted by vagus nerve stimulation: A case report.

Update on polyglucosan storage diseases.

Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.

Central Nervous System Delivery and Biodistribution Analysis of an Antibody-Enzyme Fusion for the Treatment of Lafora Disease.

Treatment with metformin in twelve patients with Lafora disease.

NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease.

In vivo glutamate clearance defects in a mouse model of Lafora disease.

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.

Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.

[Lafora disease: a review of the literature].

Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience.

Genotypes and phenotypes of patients with Lafora disease living in Germany.

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease.

[Progressive myoclonic epilepsy secondary to Lafora's body disease].

Lafora Disease Masquerading as Hepatic Dysfunction.

Lafora Disease: A Review of Molecular Mechanisms and Pathology.

Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease.

Lafora disease - from pathogenesis to treatment strategies.