Results 31 to 40 of about 8,166 (199)

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, Alejandra D.C. Encinas   +1 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Beyond Transconductance: Cell‐Polymer Coupling Determines Fidelity in Action Potential Recording via Electrolyte‐Gated Polymer Transistors

Advanced Science, EarlyView.
High electrical performance alone does not guarantee efficient bioelectronic signal transduction. Despite excellent mixed ionic‐electronic conduction, recordings from cardiomyocytes reveal that p(g2T‐TT)‐based OECTs predominantly transduce field potential FP‐like signals due to weak cell‐polymer coupling.
Giulia Zoe Zemignani, Elena Mancinelli, Gabriele Tullii, Aleksandr Khudiakov, Cristiano Bortolotti, Shubham Tanwar, Peter J. Schwartz, Luca Sala, Maria Rosa Antognazza, Mario Caironi, Adrica Kyndiah   +10 more
wiley   +1 more source

Autoimmune Calcium Channelopathies and Cardiac Electrical Abnormalities

Frontiers in Cardiovascular Medicine, 2019
Patients with autoimmune diseases are at increased risk for developing cardiovascular diseases, and abnormal electrocardiographic findings are common.
Yongxia Sarah Qu, Yongxia Sarah Qu, Pietro Enea Lazzerini, Pier Leopoldo Capecchi, Franco Laghi-Pasini, Nabil El Sherif, Mohamed Boutjdir, Mohamed Boutjdir   +7 more
doaj   +1 more source

Selective Nitrate Transmembrane Transport Through Adaptive Weak C─H Bonding Cyanostilbene Water Channels

Angewandte Chemie International Edition, EarlyView.
Here we demonstrate that weak HB CH donor cyanostilbenes promote water/ion transport through their ability to form less‐ordered transient water channels within the lipid bilayer with increased water permeability and NO3−/ Cl− selectivity. ABSTRACT Transmembrane water transport strongly depends on how dynamic, translocating water clusters are stabilized
Ioan Stroia, Dan‐Dan Su, Yuhao Li, Niculina Hadade, Ion Grosu, Arie van der Lee, Mihail Barboiu   +6 more
wiley   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations

Biomedicines, 2023
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes, Michael Pusch, Fernando Morales   +2 more
doaj   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Progressive Irreversible Proprioceptive Piezo2 Channelopathy-Induced Lost Forced Peripheral Oscillatory Synchronization to the Hippocampal Oscillator May Explain the Onset of Amyotrophic Lateral Sclerosis Pathomechanism

Cells
Amyotrophic lateral sclerosis (ALS) is a mysterious lethal multisystem neurodegenerative disease that gradually leads to the progressive loss of motor neurons.
Balázs Sonkodi
doaj   +1 more source

Sudden death in a young patient with atrial fibrillation

Cardiogenetics, 2017
Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia.
María Tamargo, María Ángeles Espinosa, Víctor Gómez-Carrillo, Miriam Juárez, Francisco Fernández-Avilés, Raquel Yotti   +5 more
doaj   +1 more source

Development and Retrospective Application of Novel Outcome Measure: Sturge–Weber Syndrome Acute Crisis (SWAC) Index

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Sturge–Weber syndrome (SWS) symptoms frequently overlap in neurological acute crises (ACs) presenting with seizures, stroke‐like episodes (SLE), and headaches. Recent efforts to develop a prospective drug trial highlighted the need for a new outcome measure capable of quantifying these symptoms during an SWS AC.
Kieran D. McKenney, Luther G. Kalb, Adrienne M. Hammill, Anne M. Comi   +3 more
wiley   +1 more source