Results 121 to 130 of about 2,693,618 (154)

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

Journal of Neurogenetics, 2012
Long QT syndrome (LQTS) is closely associated with syncope, seizure, and sudden death but LQTS is frequently misdiagnosed as epilepsy. LQTS and epilepsy both belong to the group of ion channelopathies that manifest in the heart and brain. Therefore, genetic analysis of genes associated with potassium and sodium homeostasis and electrical disorders may ...
Antonio López Farré, José J Zamorano-León   +1 more
exaly   +5 more sources

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A novel mutation in the KCNH2 gene associated with short QT syndrome

Journal of Molecular and Cellular Cardiology, 2011
A gain of function mutation N588K in the KCNH2 gene that encodes HERG channels has been shown to underlie the SQT1 form of short QT syndrome (SQTS). We describe a different mutation in the KCNH2 gene in a Chinese family with clinical evidence of SQTS. A Chinese family with a markedly short QT interval (QTc=316 ± 9 ms, n=4) and a strong family history ...
Robert H Cox
exaly   +3 more sources

Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion

Human Mutation, 2000
Analysis of the human KCNH2(HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion.
Martin Armstrong
exaly   +2 more sources

Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms

Journal of Affective Disorders, 2023
Aims: We investigated the influence of KCNQ1, KCNE1, and KCNH2 gene polymorphisms along with clinical factors on escitalopram-induced QTc prolongation. Methods: A total of 713 patients prescribed escitalopram were identified and had at least one ECG recording in this retrospective study.
Zimu Chen, Zhi Xu, Chenjie Gao, Lei Chen, Tingting Tan, Wenhao Jiang, Bingwei Chen, Yonggui Yuan, Zhijun Zhang   +8 more
openaire   +2 more sources

TheKCNH2gene is associated with neurocognition and the risk of schizophrenia

The World Journal of Biological Psychiatry, 2011
A genetic variant (rs3800779; M30) in the KCNH2 gene has been associated with schizophrenia, a lower intelligence quotient (IQ) and processing speed scores, altered brain functions and increased KCNH2-3.1. mRNA levels in the hippocampus. The aims of this study were to investigate whether the KCNH2 polymorphism is associated with schizophrenia-related ...
Ryota, Hashimoto, Kazutaka, Ohi, Yuka, Yasuda, Motoyuki, Fukumoto, Hidenaga, Yamamori, Kouzin, Kamino, Takashi, Morihara, Masao, Iwase, Hiroaki, Kazui, Masatoshi, Takeda   +9 more
openaire   +2 more sources

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome

Heart Rhythm, 2005
Long QT syndrome (LQTS) is a cardiovascular disorder characterized by prolonged QTc time, syncope, or sudden death caused by torsades de pointes and ventricular fibrillation. We investigated the clinical and electrophysiologic phenotype of individual mutations and the compound mutations in a family in which different genotypes could be found.The ...
Grunnet, Morten, Behr, Elijah Raphael, Calloe, Kirstine, Hofman-Bang, Jacob, Till, Jan, Christiansen, Michael, McKenna, William John, Olesen, Søren-Peter, Schmitt, Nicole   +8 more
openaire   +3 more sources

A Novel Mutation in the KCNH2 Gene Associatedwith Long QT Syndrome: A Case Report.

Annals of clinical and laboratory science, 2021
Long QT syndrome is a cardiovascular disease with a prolonged QT interval.We report a 22-year-old woman presenting with frequent syncopal episodes two months after childbirth. Electrocardiography showed a sinus rhythm, QT interval prolongation, and Torsade de Pointes. Her mother had experienced an episode of syncope, but her father had not.
Kelan, Zha, Qiang, Ye
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A CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY WITH CONCOMITANT MYOPATHIC SYNDROME AND MUTATIONS IN THE LMNA AND KCNH2 GENES

Emergency Cardiology and Cardiovascular Risks, 2022
A clinical case of a patient with non-compaction cardiomyopathy, early development of life-threatening arrhythmias and conduction disorders, myopathic syndrome and mutations in the LMNA and KCNH2 genes is presented. The issues of diagnostics based on imaging technologies, complex differential diagnostics of non-compaction cardiomyopathy and dilated ...
Komissarova S., Rineiska N., Chakova N., Dolmatovich T.   +3 more
openaire   +1 more source

A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1

Heart Rhythm, 2013
molecular genetic studies have identi-fied 13 different forms of congenital LQTS caused bymutations in the genes of potassium, sodium, and calciumchannels or membrane adaptors. Recent studies also showedthat common candidate gene variants are associated with QTinterval duration in the general population.
Yukako, Yoshikane, Masao, Yoshinaga, Kunihiro, Hamamoto, Shinichi, Hirose   +3 more
openaire   +2 more sources

A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes

Journal of Clinical Forensic and Legal Medicine
Sudden Cardiac Death (SCD) often shows negative anatomy results after a systemic autopsy and the gene mutations of potassium channel play a key role in the etiology of SCD. We established a feasible system to detect SCD-related mutations and investigated the mutations at KCNQ1 and KCNH2 genes in the Chinese population.
Deqing Chen, Gengqian Zhang, Zidong Liu
exaly   +3 more sources