Results 71 to 80 of about 313 (129)

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

Frontiers in Genetics
BackgroundLong QT Syndrome (LQTS) is characterized by prolonged QT intervals on electrocardiogram, which may progress into life-threatening polymorphic ventricular tachycardia and sudden cardiac death. Variants in the KCNH2 gene have been associated with
Tianci Wang, Charlene R. Norgan Radler, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy   +4 more
doaj   +1 more source

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants

Genetics in Medicine Open
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a clinically calibrated automated patch clamp assay, for 2 missense KCNH2 variants found in 2 families ...
Reema W. Aljassar, Qianyi Shen, Buthaina Albash, Jamie I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng   +5 more
openaire   +3 more sources

Role of KCNH2 potassium channels in the pathogenesis of schizophrenia

, 2013
Schizophrenia is a devastating mental disorder characterized by hallucinations, delusions, cognitive and behavioural issues. Single nucleotide polymorphisms in the second intron of the KCNH2 gene, significantly associated with the diagnosis of schizophrenia, promote transcription of a truncated Kv11.1 potassium channel isoform, Kv11.1-3.1.
openaire   +2 more sources

Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association

Annals of Pediatric Cardiology
ABSTRACT Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination.
Ventura, Francesco, Barranco, Rosario, Buffelli, Francesca, Fulcheri, Ezio, Coviello, Domenico, Palmieri, Antonella   +5 more
openaire   +3 more sources

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo Investigación de variantes génicas de canales iónicos en pacientes con síndrome del QT largo Investigation of ion channel gene variants in patients with long QT syndrome

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4

Cardiogenetics
Introduction: Clinical variability within families harbouring disease-causing genetic variants hampers clinical care and risk stratification. We studied a multigenerational family presenting with sinus bradycardia and long QT syndrome type 2 (LQTS2). The
Jaël S. Copier, Fenna Tuijnenburg, Karolina Andrzejczyk, Alex V. Postma, Saskia N. van der Crabben, Oussama Najih, Caroline Pham, Leander Beekman, Arie O. Verkerk, Ahmad S. Amin, Elisabeth M. Lodder   +10 more
doaj   +1 more source

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance

Molecular Genetics & Genomic Medicine
Background Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With
Xi‐Fan Zheng, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang   +4 more
doaj   +1 more source

Síndrome de QT largo: Nueva mutación en el gen KCNH2

Iatreia, 2010
Se presenta el caso de un paciente masculino de 10 años, con cuadro clínico y electrocardiográfico concordante con síndrome de QT largo, en quien se realizó secuenciación de los genes KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6 ...
Luis Arturo Lizcano Gil, Karina Mancera
doaj  

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk

Frontiers in Cardiovascular Medicine
Long QT syndrome (LQTS) is a hereditary cardiac channelopathy associated with delayed ventricular repolarization and increased risk of life-threatening arrhythmias and sudden cardiac death.
Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Leonel Meza-Chico, Ana Karina Zambrano   +8 more
doaj   +1 more source