Why is "Channelopathy" trending?

Search Interest Perspective

• When Sepsis Mimics a Channelopathy: Brugada Phenocopy in a Patient With Urinary Tract Infection - Cureus
• Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact - Nature
• Potassium channel-targeted therapy in reducing vascular complications in diabetes mellitus: novel insights - Frontiers
• Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model - medRxiv
• KCNMA1 -linked channelopathy - Rockefeller University Press
• A Novel Channelopathy in Pulmonary Arterial Hypertension - The New England Journal of Medicine
• Sorbs2 Deficiency and Vascular BK Channelopathy in Diabetes - American Heart Association Journals
• α-Synuclein–induced Kv4 channelopathy in mouse vagal motoneurons drives nonmotor parkinsonian symptoms - Science | AAAS
• Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis - Neurology® Journals
• Identification of small-molecule ion channel modulators in C. elegans channelopathy models - Nature
• Life-Threatening Hypokalemia Revealing CACNA1S-Related Hypokalemic Periodic Paralysis - Cureus
• Disease Modifiers of Inherited SCN5A Channelopathy - Frontiers
• Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons - Science | AAAS
• An SCN9A channelopathy causes congenital inability to experience pain - Nature
• Editorial: Emerging perspectives in sodium channelopathies - Frontiers
• ‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation - Nature
• Cancer as a channelopathy: ion channels and pumps in tumor development and progression - Frontiers
• Action potential broadening in a presynaptic channelopathy - Nature
• hERG epitope mimic-decoy peptide corrects autoimmune-long QT syndrome in guinea pigs - Nature
• Channelopathies in fragile X syndrome - Nature
• Sodium channelopathy could underlie concussion symptoms - Nature
• News and views on ion channels in cancer: is cancer a channelopathy? - Frontiers
• Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies - Frontiers
• Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies - Nature
• Intellectual Disability and Potassium Channelopathies: A Systematic Review - Frontiers
• Structural Insight Into Ryanodine Receptor Channelopathies - Frontiers
• TRPV4 -pathy, a novel channelopathy affecting diverse systems - Nature
• A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia - Nature
• ABCC9 -related Intellectual disability Myopathy Syndrome is a K - Nature
• Sodium channelopathies in neurodevelopmental disorders - Nature
• Gating pore current in an inherited ion channelopathy - Nature
• Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels | Acta Pharmacologica Sinica - Nature
• Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery - Frontiers
• Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing - Nature
• Skeletal muscle channelopathy: a new risk for sudden infant death syndrome - The Lancet
• The cerebellar channelopathy of multiple sclerosis - Neurology® Journals
• SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction - Frontiers
• Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder - Nature
• Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome - American Heart Association Journals
• Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization - PNAS
• Cardioimmunology of arrhythmias: the role of autoimmune and inflammatory cardiac channelopathies - Nature
• Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report - Frontiers
• Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies - Nature
• Genetic mutations in potassium ion channel target of new drug development - WashU
• Voltage-Gated Sodium Channels: Biophysics, Pharmacology, and Related Channelopathies - Frontiers
• Emerging Arrhythmic Risk of Autoimmune and Inflammatory Cardiac Channelopathies - American Heart Association Journals
• Three genetic mutations seen in individuals with KCNMA1-linked channelopathy successfully mirrored in mice - News-Medical
• Progressive Dendritic HCN Channelopathy during Epileptogenesis in the Rat Pilocarpine Model of Epilepsy - Journal of Neuroscience
• Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases - Journal of Neuroscience
• Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes as Models for Cardiac Channelopathies: - American Heart Association Journals
• Family report of Birk-Barel syndrome — a neurodevelopmental channelopathy with epigenetic signature - Via Medica Journals
• MLC1 protein: a likely link between leukodystrophies and brain channelopathies - Frontiers
• CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness - Nature
• Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies - American Heart Association Journals
• Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? - Frontiers
• DiscoVari : A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes - American Heart Association Journals
• Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches - The Lancet
• Channelopathies have many faces - Nature
• Two novel presentations of KCNMA1-related pathology––Expanding the clinical phenotype of a rare channelopathy - Wiley Online Library
• Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases - Nature
• Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use - The Lancet
• Cardiac channelopathies: it's in the genes - Nature
• Transcriptional channelopathies: An emerging class of disorders - Nature
• SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies - Nature
• NALCN channelopathies - Neurology® Journals
• CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms - Rockefeller University Press
• Standing for Armani' : A Little Boy Fighting a Rare, Life Threatening Genetic Condition - Givealittle
• Syndromic disorders caused by gain-of-function variants in KCNH1 KCNK4 , and KCNN3 —a subgroup of K - Nature
• Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype - Nature
• Sex-Related Differences in Cardiac Channelopathies: - American Heart Association Journals
• Editorial: Inherited Arrhythmias of the Cardiac Sodium Channel Nav1.5 - Frontiers
• Diabetic Dead‐in‐Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy - Wiley Online Library
• Recent Advances in the Pathogenesis and Drug Action in Periodic Paralyses and Related Channelopathies - Frontiers
• The long QT syndrome family of cardiac ion channelopathies: A HuGE review - Nature
• Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants - Neurology® Journals
• Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na - Nature
• Association of Cardiac Electrical Disorders With KCND3 Gene Mutation - Cureus
• A review of potassium channels in bipolar disorder - Frontiers
• A new cerebral canalopathy associating intellectual disability and abnormal movements - Salle de presse de l'Inserm
• Teaching Video NeuroImages: Lid lag sign and diplopia in paramyotonia congenita - Neurology® Journals
• How Functional Genomics Can Keep Pace With VUS Identification - Frontiers
• A novel mutation causing DEND syndrome - Neurology® Journals
• The safety of sports in children with inherited arrhythmia substrates - Frontiers
• Sodium Channels and Local Anesthetics—Old Friends With New Perspectives - Frontiers
• The phenotype of congenital insensitivity to pain due to the Na - Nature
• -Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies - Frontiers
• Developmental mechanisms underlying pediatric epilepsy - Frontiers
• Refined exercise testing can aid dna‐based diagnosis in muscle channelopathies - Tan - 2011 - Annals of Neurology - Wiley Online Library
• Tyler Nelson, PhD, Named One of ANF’s 2023 Development Grant Recipients | Newswise - Newswise
• Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses - Wiley Online Library
• No pain and extreme pain from one gene - Medical Xpress
• Genetics in relation to cardiac diseases: Implications for general practitioners - Royal Australian College of General Practitioners (RACGP)
• Real-life superhero: The boy who can't feel pain - NZ Herald