Results 81 to 90 of about 9,985 (188)
CardiogeneticsBackground: An electrocardiogram (ECG) is an essential and easily available diagnostic test in the management of cardiomyopathies and channelopathies. Different strategies based on ECG have been recommended for general population and athlete screening ...
Mariela Salar-Alcaraz +10 more
doaj +1 more source
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 +7 more
wiley +1 more source
Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model
Myotonic dystrophy type 1 (DM1) involves misregulated alternative splicing for specific genes. We used exon or nucleotide deletion to mimic altered splicing of genes central to muscle excitation-contraction coupling in mice.
Lily A. Cisco +4 more
core +1 more source
Multiple Regulatory Signals and Components in the Modulation of Bicarbonate Transporters
PharmaceuticsBicarbonate transporters are responsible for the appropriate flux of bicarbonate across the plasma membrane to perform various fundamental cellular functions.
Hyeong Jae Kim, Jeong Hee Hong
doaj +1 more source
Interview with Zining Liu, recipient of the 2026 Epilepsia Open Prize for Basic Science Research
Epilepsia Open, EarlyView.
Merab Kokaia, Piero Perucca
wiley +1 more source
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 +16 more
wiley +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 +15 more
wiley +1 more source
Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]
, 2013 Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Hummel, Thomas +9 more
core +2 more sources
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 +9 more
wiley +1 more source
Neurotransmitters and Sodium Channelopathies; Possible Link?
Pediatric Neurology Briefs, 2017 Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and ...
Michael F. Hammer +1 more
doaj +1 more source