Disease: Jervell Lange-Nielsen syndrome
- "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports"
- A Case Series of Concomitant Cardiac Electrical Disease among Takotsubo Syndrome Patients and Literature Review
- A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations
- A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
- A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report
- Acquired long QT syndrome and torsade de pointes
- An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations
- An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition
- Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy
- Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome
- Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia
- Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy
- Cardiac rhythm disturbances in the children with hearing pathology
- Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy
- Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population
- Chromosomal aberrations after induced pluripotent stem cells reprogramming
- Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
- Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience
- Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
- Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity
- Cochlear implant function in a patient with Jervell and Lange-Nielsen syndrome after defibrillation by countershock
- Cochlear implantation in children with congenital long QT syndrome: Introduction of an evidence-based pathway of care
- Cochlear Implantation in Congenital Long-QT Syndrome: A Comprehensive Study
- Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the <em>WHRN</em> and <em>TMC1</em> genes
- Common founder effects of hereditary hemochromatosis, Wilsons disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
- Comparison of Image Quality, Diagnostic Accuracy and Radiation Dose Between Flash Model and Retrospective ECG-Triggered Protocols in Dual Source Computed Tomography (DSCT) in Congenital Heart Diseases
- Comprehensive analysis of syndromic hearing loss patients in Japan
- Computational Study on Effect of KCNQ1 P535T Mutation in a Cardiac Ventricular Tissue
- Congenital Long QT syndrome and torsade de pointes
- Congenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes and Clinical Management
- Congenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes, and Clinical Management
- Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory
- Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families
- Difficult management of Jervell and Lange-Nielsen syndrome: An endless search
- Electrocardiogram Screening in Children with Congenital Sensorineural Hearing Loss: Prevalence and Follow-up of Abnormalities
- Electrocardiogram screening of deaf children for long QT syndrome: An Egyptian experience
- Epilepsy in patients with long QT syndrome type 1: A Norwegian family
- Establishment of human embryonic stem cell lines carrying LQT1 mutations by CRISPR base editing
- Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants and two iPSC lines from the parents (XACHi0
- Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants and two iPSC lines from the parents (XACHi013-A
- Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia
- Fetal heart rate reflects mutation burden and clinical outcome in twin probands with <em>KCNQ1</em> mutations
- Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome <em>KCNQ1</em> Variants
- Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants
- Functionally Aberrant Mutant KCNQ1 With Intermediate Heterozygous and Homozygous Phenotypes
- Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2
- Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives
- Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
- Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene
- Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients
- Genetic homozygosity in a diverse population: An experience of long QT syndrome
- Genetic testing hearing loss: The challenge of non syndromic mimics
- Hereditary hearing loss
- Human iPS cell models of Jervell and Lange-Nielsen syndrome
- Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families
- Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome
- Jervell and Lange-Nielsen syndrome
- Jervell and Lange-Nielsen Syndrome
- Jervell and Lange-Nielsen Syndrome
- Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous <em>KCNQ1</em> Mutation in a Chinese Family
- Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family
- Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature
- Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
- KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1
- Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series
- Long QT Syndrome Management during and after Pregnancy
- Macro T-wave Alternans in Jervell and Lange-Nielsen Syndrome
- Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness
- Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome
- Mutation-Specific Differences in Kv7.1 (<em>KCNQ1</em>) and Kv11.1 (<em>KCNH2</em>) Channel Dysfunction and Long QT Syndrome Phenotypes
- Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome
- New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity
- New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity
- Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome
- Novel frameshift mutation in the <em>KCNQ1</em> gene responsible for Jervell and Lange-Nielsen syndrome
- Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
- Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome
- Outcomes of Citalopram Dosage Risk Mitigation in a Veteran Population
- Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis
- Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome
- Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss
- Prevalence of Jervell-Lange Nielsen syndrome in children with congenital bilateral sensorineural hearing loss
- Propranolol syrup to tablets change triggers electrical storm in Jervell-Lange-Nielsen syndrome
- QT Interval and Its Prolongation - What Does It Mean?
- QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study
- Recessive <em>COL17A1</em> Mutations and a Dominant <em>LAMB3</em> Mutation Cause Hypoplastic Amelogenesis Imperfecta
- Replacement of an Implantable Cardioverter-Defibrillator (ICD) with a New Standard Subcutaneous ICD System in a Patient with Jervell and Lange-Nielsen Syndrome
- Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children
- Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics
- The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia
- The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block
- The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ss-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?
- The Long QT Syndrome: A Review and Mortality Analysis
- The long-term efficacy of left cardiac sympathetic denervation in long QT syndrome
- The Pathological Mechanisms of Hearing Loss Caused by <em>KCNQ1</em> and <em>KCNQ4</em> Variants
- Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report
- Two Cases of LQT Syndrome with Malignant Syncope after Switch from Propranolol to Bisoprolol
- Unlocking the Potential of Left Cardiac Sympathetic Denervation: A Scoping Review of a Promising Approach for Long QT Syndrome
- Where Is the Lead?: An Unusual Progression of Lead Fracture