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Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.
Ann Clin Transl Neurol
January 2025
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.
View Article and Find Full Text PDFCortical changes associated with an anterior cruciate ligament injury may retrograde skilled kicking in football: preliminary EEG findings.
Sci Rep
January 2025
Department of Sport & Health, Exercise Science & Neuroscience Unit Universität Paderborn, Warburger Straße 100, 33098, Paderborn, Germany.
Anterior cruciate ligament injuries (ACLi) impact football players substantially leading to performance declines and premature career endings. Emerging evidence suggests that ACLi should be viewed not merely as peripheral injuries but as complex conditions with neurophysiological aspects. The objective of the present study was to compare kicking performance and associated cortical activity between injured and healthy players.
View Article and Find Full Text PDFShort-Latency Trigeminocervical Reflex Obtained Without Muscle Activation: Topographic Distribution and Methodological Approach.
J Clin Neurophysiol
November 2024
Department of Clinical Neurophysiology, Federal University of São Paulo, São Paulo, SP, Brazil.
Purpose: Electrical stimulation of trigeminal nerve branches elicits early and late reflex responses in the cervical muscles, known as the trigeminocervical reflex (TCR). This study aimed to evaluate the neurophysiological aspects, stimulation patterns, and topographic distribution of short-latency TCR components in humans in the absence of voluntary muscle activation.
Methods: This prospective observational study included 30 participants.
Neurophysiological Insights into the Pathophysiology of Stiff-Person Spectrum Disorders.
Mov Disord Clin Pract
January 2025
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Background: Stiff Person Spectrum Disorders (SPSD) are classically defined by the presence of muscle stiffness, spasms and hyperactivity of the central nervous system. There is a notable correlation between neurophysiological features and the clinical hallmark of SPSD, which has greatly encouraged the use of these techniques for diagnostic purposes. Besides, electrophysiological techniques allow for a functional evaluation of the 'hyperactivity of the CNS', thus offering the opportunity to clarify the mechanisms underlying this disorder.
View Article and Find Full Text PDFThe Investigation of the Relationship Between Individual Pain Perception, Brain Electrical Activity, and Facial Expression Based on Combined EEG and Facial EMG Analysis.
J Pain Res
January 2025
Department of Rehabilitation Medicine, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
Purpose: Pain is a multidimensional, unpleasant emotional and sensory experience, and accurately assessing its intensity is crucial for effective management. However, individuals with cognitive impairments or language deficits may struggle to accurately report their pain. EEG provides insight into the neurological aspects of pain, while facial EMG captures the sensory and peripheral muscle responses.
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