Results 111 to 120 of about 132,081 (301)
“When Is Esophageal Spasm, Spasm?”
S B, Benjamin +2 more
openaire +2 more sources
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
Objective:To explore the influence of traditional Chinese medicine nursing techniques on spasm of upper limb hemiplegia,daily living ability and limb movement function of patients after stroke.Methods:A total of 82 patients with spastic hemiplegia after ...
张洁, 鲁剑萍, 孙慧君
doaj
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
Objective:The purpose of this study is to analyze the effects of electroacupuncture Quchi (LI 11) -Yanglingquan (GB 34) in Sprague-Dawley (SD) rats with spasticity of cerebral apoplexy (SCA) on the nerve injury, ultrastructural changes in synapses, and ...
Bin GUO +8 more
doaj
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras +6 more
wiley +1 more source
Abstract Objective Epilepsy surgery is an effective treatment option for patients with medically refractory epilepsy due to mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE). The success of surgery depends on the accurate localization of the epileptogenic zone, which can be challenging due to the subtle imaging ...
Jean Khoury +7 more
wiley +1 more source
De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy
Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley +1 more source

