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Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes.

Action myoclonus, reviewed in this chapter, is the term applied to arrhythmic muscular jerking induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. The effective stimuli for action myoclonus is probably feedback from muscle afferents, although it may be initiated by corollary discharge from motor cortex to reticular formation before or at the onset of voluntary movement. The condition is usually associated with diffuse neuronal disease such as post-hypoxic encephalopathy, uremia

Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy.

The epilepsies of childhood are distinguished by an interesting dichotomy between the benign and catastrophic disorders. Approximately 50% of children outgrow childhood epilepsy as they mature; although the disorder is disruptive for children and families alike, it is not considered a medical disaster. The catastrophic epilepsies of childhood, in contrast, are associated with significant morbidity and mortality. Infantile spasms, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies are correlated with significant disability and a multiplicity of underlying etiologies. Accurate dia

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurofibrillary tangle formation and Lafora bodies (LBs). LBs are deposits of starch-like polyglucosans, insufficiently branched and hence insoluble glycogen molecules resulting from glycogen synthase (GS) overactivity relative to glycogen branching enzyme activity. We previously made the unexpected observation that laforin, in the absence of which polyg

Interrater agreement of classification of photoparoxysmal electroencephalographic response.

Our goal was to assess the interrater agreement (IRA) of photoparoxysmal response (PPR) using the classification proposed by a task force of the International League Against Epilepsy (ILAE), and a simplified classification system proposed by our group. In addition, we evaluated IRA of epileptiform discharges (EDs) and the diagnostic significance of the electroencephalographic (EEG) abnormalities. We used EEG recordings from the European Reference Network (EpiCARE) and Standardized Computer-based Organized Reporting of EEG (SCORE). Six raters independently scored EEG recordings from 30 patients

Proceedings 27th Symposium ESVN‐ECVN

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Abstracts - IANCON 2025

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PROCEEDINGS 32nd Symposium ESVN-ECVN WROCLAW, POLAND 12th-14th September 2019. Selected research communications of the 32nd Symposium of the ESVN-ECVN Wroclaw, Poland 12th to 14th September 2019.

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Совпадение в полном тексте источника
… | Hélène Vandenberghe FP18) | Prognostic value of early computed tomography in dogs after traumatic brain injury | Elsa Beltran FP19) | Magnetic Resonance Spectroscopy findings in a beagle dog with genetically confirmed Lafora Disease | Neringa Alisauskaite FP20) | A patient‐specific 3D printed surgical …

Small molecule metabolites: discovery of biomarkers and therapeutic targets.

Metabolic abnormalities lead to the dysfunction of metabolic pathways and metabolite accumulation or deficiency which is well-recognized hallmarks of diseases. Metabolite signatures that have close proximity to subject's phenotypic informative dimension, are useful for predicting diagnosis and prognosis of diseases as well as monitoring treatments. The lack of early biomarkers could lead to poor diagnosis and serious outcomes. Therefore, noninvasive diagnosis and monitoring methods with high specificity and selectivity are desperately needed. Small molecule metabolites-based metabolomics has b

Virtual music therapy during the COVID-19 pandemic: an updated scoping review.

ObjectiveThe objective of this update to a previously published scoping review was to map how music therapists used virtual music therapy during the COVID-19 pandemic.IntroductionVirtual music therapy underwent significant development during the COVID-19 pandemic. Consequently, the number of publications increased dramatically compared to early 2021, when only 10 records were available. An update to the previous scoping review was necessary to explore the current state of this emerging music therapy discipline and provide important information for health care practitioners, scholars, and resea

Evolving cognition of the JAK-STAT signaling pathway: autoimmune disorders and cancer.

The Janus kinase (JAK) signal transducer and activator of transcription (JAK-STAT) pathway is an evolutionarily conserved mechanism of transmembrane signal transduction that enables cells to communicate with the exterior environment. Various cytokines, interferons, growth factors, and other specific molecules activate JAK-STAT signaling to drive a series of physiological and pathological processes, including proliferation, metabolism, immune response, inflammation, and malignancy. Dysregulated JAK-STAT signaling and related genetic mutations are strongly associated with immune activation and c

Совпадение в полном тексте источника
… 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. Neurobiol. Dis. 2023;176:105964. doi: 10.1016/j.nbd.2022.105964. 76. Hu X, Li J, Fu M, Zhao X, Wang W. …

ИАНКОН 2023 Выдержки из плаката

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Специальный выпуск: резюме 11th Конгресс Европейской академии неврологии, Хельсинки, Финляндия.

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Совпадение в полном тексте источника
… EPO‐022 Safety, efficacy and pharmacokinetic analysis of intravenous VAL‐1221 treatment in Lafora disease L. Muccioli ; M. Tappatà; E. Esposito; A. Caravelli; C. Cancellerini; E. Pasini; R. Minardi; E. Pizzi; S. Mazzone; V. Carelli; L. Vignatelli; J. Fiori; R. Michelucci; F. … Efficacy was evaluated using clinical scales (including the Lafora disease clinical performance scale‐LDPS) and neuroimaging. Pharmacokinetic studies were performed using liquid chromatography‐high resolution mass spectrometry (LC‐HRMS) to analyze plasma and CSF samples. …

ePoster.

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Abstracts - IANCON 2024

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Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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