Results 31 to 40 of about 356,945 (257)
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy [PDF]
, 2022 Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals.
Camacho Salas, Ana +15 more
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Advanced Science, EarlyView.Subarachnoid hemorrhage (SAH) triggers monocyte‐derived macrophage (MDM) infiltration and M1‐like polarization via Vimentin upregulation, leading to neurovascular unit disruption and cognitive dysfunction. Remote ischemic postconditioning (RIPostC) upregulates neuronal Gas6, which activates Axl on MDMs to downregulate Vimentin and drive reparative M2 ...
Yajun Zhu +14 more
wiley +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Cenobamate in patients with highly refractory focal epilepsy: A retrospective real-world study
, 2023 20.500.12530/87855Purpose: To determine the effectiveness and safety outcomes of cenobamate in a cohort of patients with highly refractory focal epilepsy in routine clinical practice.Methods: Observational, retrospective, phase 4 study on subjects ...
Paloma Parra-Díaz +21 more
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Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman +9 more
wiley +1 more source
Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post‐Herpetic Neuralgia Patients
Annals of Neurology, EarlyView.Proposed model of exosome‐mediated neuronal dysfunction in post‐herpetic neuralgia (PHN). (1) Circulating, non‐pathogenic exosomes maintain homeostatic processes in healthy skin, where sensory nerve fibers innervate the epidermis and dermis. (2) During acute zoster, reactivating varicella zoster virus (VZV) travels down neurites to the skin causing ...
Christy S. Niemeyer +14 more
wiley +1 more source
Neuromodulation in refractory epilepsy: Brazilian specialists consensus
, 2016 Epilepsy is a potentially devastating brain disorder characterized by a predisposition to spontaneous epileptic seizures. In patients with medically refractory epilepsy, new non-pharmacological therapeutic approaches may be considered.
Ricardo Amorim +20 more
core +2 more sources
Os motivos da baixa escolaridade são fatores preditores do desempenho cognitivo de pacientes adultos com epilepsia do lobo temporal mesial fármacorresistente? [PDF]
, 2012 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Ciências Médicas, Florianópolis, 2012Introdução: A escolaridade é positivamente associada com a performance cognitiva de pessoas ...
Cavallazzi, Gisele Genovez
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