Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome: a real-world study [PDF]
, 2023 Wen He +10 more
openalex +1 more source
Movement Disorders, EarlyView.The “second‐hit” hypothesis proposes that both a genetic predisposition and an environmental insult—such as peripheral nerve trauma or spinal cord injury—are required for dystonia development. This review explores how neuroinflammation and maladaptive plasticity, triggered by nerve and spinal cord injury, contribute to dystonia pathogenesis.
Lisa Harder‐Rauschenberger +1 more
wiley +1 more source
Symmetry of ictal slow waves may predict the outcomes of corpus callosotomy for epileptic spasms [PDF]
, 2019 Sotaro Kanai +9 more
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Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms [PDF]
, 2023 Lokesh Saini +9 more
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Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, EarlyView.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
A Role for Insulin‐like Growth Factor 1 in the Generation of Epileptic Spasms in a murine model
, 2022 Carlos J. Ballester‐Rosado +7 more
openalex +2 more sources
Using the TTX Model to Better Understand the Pathophysiology of a DREADDed Epilepsy—Infantile (Epileptic) Spasms [PDF]
, 2021 Carl E. Stafstrom
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Movement Disorders, EarlyView.Abstract Background Functional dystonia (FD) is one of the most diagnostically challenging functional movement disorders. Phenomenological features often lack specificity, as many are also observed in idiopathic dystonia (ID) and validated biomarkers to distinguish FD from ID are currently unavailable Objective To investigate potential differences in ...
Roberto Eleopra +17 more
wiley +1 more source
Diagnostic evaluation of patients with epileptic spasms in the era of next‐generation sequencing [PDF]
Ali Mir +10 more
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Distinct Roles of Cerebellar Afferent and Efferent Fiber Tracts in Craniocervical Dystonia
Movement Disorders, EarlyView.Abstract Background The cerebellum has been widely implicated in the pathogenesis of craniocervical dystonia (CCD). Subthalamic nucleus deep brain stimulation (STN‐DBS) has emerged as an effective therapy for CCD. However, the roles of cerebellar afferent and efferent pathways in CCD pathogenesis and STN‐DBS treatment remain poorly understood ...
Bin Liu +10 more
wiley +1 more source