Disease: Epilepsy progressive myoclonic type 3
- A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
- A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients
- A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy
- A survey of seizures and current treatments in 15q duplication syndrome
- A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus
- Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1
- Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion
- Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs
- An elongated tract of polyQ in the carboxyl‑terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation
- Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis
- Autophagy and Polyglutamine Disease
- Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy
- C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation
- Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy
- Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures
- Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement
- Clinical and genetic characteristics of 62 children with mitochondrial epilepsy
- Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
- Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family
- Clinical and genetic factors predicting Dravet syndrome in infants with <em>SCN1A</em> mutations
- Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients
- Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations
- Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior
- Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior
- Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo
- Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all
- Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation
- Defining Dravet syndrome: An essential pre-requisite for precision medicine trials
- Diagnosis and treatment of status epilepticus in Down Syndrome (DS): A case report and systematic literature review
- Differential diagnosis of chorea
- Dravet syndrome: from electroclinical characteristics to molecular biology
- EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
- Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
- Epilepsy in adults with mitochondrial disease: A cohort study
- Epilepsy with myoclonic absences in siblings
- Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency
- Evolving features in type 3 Gaucher disease on long-term enzyme replacement therapy
- Expanding spectrum of <em>RARS</em>2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features
- Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features
- FAME 3: a novel form of progressive myoclonus and epilepsy
- First report of Tunisian patients with CDKL5-related encephalopathy
- Focal Impaired Awareness Seizure
- Fronto-striatal dysfunction in type 3 familial cortical myoclonic tremor epilepsy occurring during aging
- Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity
- Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin
- Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country
- High-frequency component in flash visual evoked potentials in type 3 Gaucher disease
- Human stefin B: from its structure, folding, and aggregation to its function in health and disease
- Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome
- Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement
- KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
- Lafora Disease
- Lafora Disease
- Lafora disease in miniature Wirehaired Dachshunds
- Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin
- Lafora's progressive myoclonus epilepsy and diagnosed cases in Costa Rica
- Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers
- Levetiracetam in three cases of progressive myoclonus epilepsy
- Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3
- Mitochondrial biogenesis: pharmacological approaches
- Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice
- Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis
- Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
- Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties
- Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties
- Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis
- Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease
- Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination
- Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients)
- Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
- No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy
- Nodding syndrome in Ugandan children--clinical features, brain imaging and complications: a case series
- Norrbottnian clinical variant of Gaucher disease in Southern Italy
- Novel Truncating and Missense Variants in <em>SEMA6B</em> in Patients With Early-Onset Epilepsy
- Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy
- Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice
- Opening the K(V)3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?
- Our clinical experience with zonisamide in resistant generalized epilepsy syndromes
- Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
- Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans
- Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease
- Progressive myoclonic epilepsies: it takes a village to make a diagnosis
- Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review
- Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia
- Progressive Myoclonus Epilepsies
- Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review
- Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer
- Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>
- Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice
- Short- and long-interval intracortical inhibition in EPM1 is related to genotype
- Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients
- Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)
- The history of progressive myoclonus epilepsies
- The urinary proteome and metabonome differ from normal in adults with mitochondrial disease
- Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism
- Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery
- Two cases of neuronopathic form of Gaucher disease - diagnostic difficulties
- Typical progression of myoclonic epilepsy of the Lafora type: a case report
- Worsening of negative myoclonus by lamotrigine in a case of idiopathic focal epilepsy of children with long-term follow-up