Results 91 to 100 of about 11,955 (223)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Melanopsin‐Mediated Post‐Illumination Pupillary Response in Idiopathic Rapid Eye Movement (REM) Sleep Behavior Disorder and Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Aims To conduct a case–control study to investigate melanopsin‐mediated post‐illumination pupillary response (PIPR) in patients with Parkinson's disease (PD), video‐polysomnography‐confirmed isolated/idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD), and age‐matched healthy controls (HC). Methods PIPR was measured at 6 s after
Joey W.Y. Chan, Bei Huang, Siyi Gong, Yuhua Yang, Shi Tang, Steven Wai‐ho Chau, Ngan Yin Chan, Tim Man‐ho Li, Yaping Liu, Anne Y.Y. Chan, Karen K.Y. Ma, Shirley X. Li, Joshua Tsoh, Kelvin K.L. Chong, Kathryn A. Roecklein, Vincent C.T. Mok, Yun Kwok Wing   +16 more
wiley   +1 more source

Skeletal muscle sodium channelopathies

, 2015
International audiencePurpose of review: This is an update on skeletal muscle sodium channelopathies since knowledge in the field have dramatically increased in the past years.Recent finding: The relationship between two phenotypes and SCN4A has been ...
Nicole, Sophie, Fontaine, Bertrand
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Prevalence study of genetically defined skeletal muscle channelopathies in England. [PDF]

, 2013
To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these ...
Horga, A, D. L. Raja Rayan, S. Portaro, E. Matthews, Haworth, A, S. C. M. Durran, Hanna, MG, Matthews, E, Burge, JA, M. B. Davis, Raja Rayan, DL, Portaro, S, M. G. Hanna, Davis, MB, D. Fialho, A. Horga, R. Sud, J. A. Burge, Sud, R, Fialho, D, A. Haworth, Durran, SC   +21 more
core   +1 more source

First Experience With Extravascular Implantable Cardioverter‐Defibrillator Under Deep Sedation

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background The Extravascular Implantable Cardioverter‐Defibrillator (EV‐ICD) utilizes a substernal lead to provide defibrillation and anti‐tachycardia pacing (ATP) while avoiding transvenous complications. General anesthesia (GA) was applied for implantation procedures in the EV‐ICD pivotal trial and is currently recommended by the ...
Nibras Soubh, Bernhard C. Danner, Ulrich Krause, Matthias J. Müller, Markus Zabel, Gerd Hasenfuß, Constanze Schmidt, Helge Haarmann, Eva Rasenack, Leonard Bergau   +9 more
wiley   +1 more source

Diagnosis and new treatment in muscle channelopathies

, 2009
The skeletal muscle fibre membrane plays a major role in muscle contraction by generating and propagating action potentials, and linking the latter to the release of intracellular calcium stores which triggers mechanical contraction. This function relies
B. Fontaine, M. G. Hanna, G. Meola
core   +1 more source

Neurocardiac crosstalk in inherited cardiac arrhythmias and cardiomyopathy

The Journal of Physiology, EarlyView.
Abstract figure legend In inherited cardiac arrhythmias and cardiomyopathy, arrhythmias are typically triggered by autonomic nervous system activity. Genetic mutations linked to these conditions cause pro‐arrhythmic alterations in both cardiomyocytes and neurons, with their pathophysiological crosstalk likely amplifying the manifestation of the disease.
Carol Ann Remme, Molly O'Reilly
wiley   +1 more source

Catheter Ablation for Channelopathies: When Is Less More?

Ventricular fibrillation (VF) is a common cause of sudden cardiac death in patients with channelopathies, particularly in the young population. Although pharmacological treatment, cardiac sympathectomy, and implantable cardioverter defibrillators (ICD ...
Binita Ghosh, Andreas S. Barth, Rishi Chandiramani, Babken Asatryan, Adhya Mehta, Adrija Hajra   +5 more
core   +1 more source

Energetic microdomains and the vascular control of neuronal and muscle excitability: Toward a unified model

The Journal of Physiology, EarlyView.
Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley   +1 more source