Disease: Epilepsy- myoclonic progressive familial
- "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene"
- A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
- A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
- A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
- AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
- Adult-onset Kufs disease
- Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress
- Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
- Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
- Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy
- Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes
- Caregiver perceptions of the impact of Dravet syndrome on the family, current supports and hopes and fears for the future: A qualitative study
- Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy
- Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients
- Clinical Signs in 166 Beagles with Different Genotypes of Lafora
- Conventional and novel anti-seizure medications reveal a particular role for GABA(A) in a North Sea progressive myoclonus Epilepsy Drosophila model
- Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy
- Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?
- CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
- Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model
- Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea
- Detecting negative myoclonus during long-term home measurements using wearables
- DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
- Differential diagnosis of familial adult myoclonic epilepsy
- Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy
- Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
- Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis
- Epm2a<sup>R240X</sup> knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a<sup>-/-</sup> mice
- Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
- Familial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease
- Familial adult myoclonus epilepsy: a pragmatic approach
- Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities
- Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
- Functional analysis of a novel splice site variant in the ASAH1 gene
- Gene therapy for Lafora disease in the Epm2a<sup>-/-</sup> mouse model
- Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1)
- Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
- Globus Pallidus Internus (GPi) Neuromodulation is Not Effective in Unverricht-Lundborg Disease to Control Myoclonia
- Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
- History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world
- Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome
- ILAE Genetics Literacy series: Progressive myoclonus epilepsies
- Impaired malin expression and interaction with partner proteins in Lafora disease
- IRF2BPL as a novel causative gene for progressive myoclonus epilepsy
- IRF2BPL: A new genotype for progressive myoclonus epilepsies
- Isolated paravermal T2 high-intensity lesions in dentatorubral-pallidoluysian atrophy
- KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
- Lafora Disease
- Lafora Disease
- Lafora Disease: A Case Report and Evolving Treatment Advancements
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
- Low glycemic index therapy in children with sub-acute sclerosing panencephalitis (SSPE): an experience from a measles-endemic country
- MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
- Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort
- Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients
- Modeling and Correction of Protein Conformational Disease in iPSC-derived Neurons through Personalized Base Editing
- MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
- Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum
- Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
- Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease
- Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy
- Novel Genetic and Phenotypic Expansion in <em>GOSR2</em>-Related Progressive Myoclonus Epilepsy
- Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
- Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review
- Opening the K(V)3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?
- P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
- Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids
- Pearls & Oy-sters: Epilepsy Is a Key Feature of Pediatric-Onset Huntington Disease
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
- Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
- Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"
- Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function
- Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal <sup>1</sup>H MRS brain metabolic profiles associated with cognitive function
- Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
- Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
- Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases
- Retinal Phenotyping of a Murine Model of Lafora Disease
- Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy
- Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
- Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders
- SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes
- Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?
- Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
- Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress
- Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
- The assessment of the impact of antiepileptic drugs on cognitive functions via N-200/P-300 potentials and neuropsychological measures
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
- The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed
- The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family
- The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1
- Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for "deep phenotyping" in genetic epilepsies
- Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
- Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings
- Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation
- Whole exome sequencing identified five novel variants in <em>CNTN2</em>, <em>CARS2</em>, <em>ARSA</em>, and <em>CLCN4</em> leading to epilepsy in consanguineous families
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
- Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families