Results 81 to 90 of about 2,693,618 (154)

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

PLoS ONE, 2018
BackgroundTo review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand.MethodsAudit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner, Cardiac Inherited Disease Group New Zealand   +10 more
doaj   +1 more source

Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report

Medwave
Long QT syndrome is a rare cardiac channelopathy characterized by prolonged QT intervals and altered T wave morphology. The etiology of long QT syndrome is multifactorial, including environmental and genetic factors. In addition, several heart diseases have been associated with the individual's ethnicity.
Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +8 more
openaire   +2 more sources

Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study

, 2021
Background: The pathobiology of schizophrenia is still unclear. Its current treatment mainly depends on antipsychotic drugs. A leading adverse effect of these medications is the acquired long QT syndrome, which results from the blockade of cardiac HERG1 ...
Acuner, Tufan Tevfik, Atalar, Fatmahan, ÇİNE, NACİ, ONCU, Fatih, YESILBURSA, Dogan, Ozbek, Ugur, TURKCAN, Solmaz   +6 more
core   +1 more source

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.: Characterizing novel KCNH2 mutations

, 2009
International audienceBACKGROUND: Long QT syndrome (LQTS) is characterized by corrected QT interval prolongation leading to torsades de pointes and sudden cardiac death. LQTS type 2 (LQTS2) is caused by mutations in the KCNH2 gene, leading to a reduction
Ficker, Eckhard, Chahine, Mohamed, Christé, Georges, Grenier, Julie, Keller, Dagmar, Osswald, Stephan, Dubouloz, Frédérique, Brink, Marijke   +7 more
core   +1 more source

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

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

BMC Cardiovascular Disorders, 2012
Background Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death.
Stattin Eva-Lena, Boström Ida, Winbo Annika, Cederquist Kristina, Jonasson Jenni, Jonsson Björn-Anders, Diamant Ulla-Britt, Jensen Steen M, Rydberg Annika, Norberg Anna   +9 more
doaj   +1 more source

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2 [PDF]

, 2014
Please cite as follows: Christiansen, M. et al. 2014. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Pedersen, Lisbeth N, Aidt, Frederik H, Bloch Thomsen, Poul E., Hedley, Paula L., Stoevring, Birgitte, Aidt, Frederik H., Ousager, Lilian Bomme, Jensen, Henrik Kjærulf, Christiansen, Michael, Leren, Trond P, Sørensen, Karina M., Aidt, Frederik Heurlin, Bundgaard, Henning, Henriksen, Finn L, Kanters, Jørgen K, Tybjærg-Hansen, Anne, Eschen, Ole, Hansen, Michael G., Theilade, Juliane, Hansen, Michael G, Frikke-Schmidt, Ruth, Hansen, Jim, Jensen, Henrik K, Ousager, Lilian B., Sørensen, Karina M, Kanters, Jorgen K., Ousager, Lilian Bomme; id_orcid, Hedley, Paula L, Pedersen, Lisbeth N., Henriksen, Finn Lund, Toft, Egon, Kanters, Jørgen K., Leren, Trond P., Henriksen, Finn L., Thomsen, Poul Erik Bloch, Bloch Thomsen, Poul E, Jensen, Henrik K., Lisbeth N Pedersen, Frederik H Aidt, Henrik K Jensen, Henning Bundgaard, Lilian B Ousager, Finn L Henriksen, Michael G Hansen, Egon Toft, Anne Tybjærg-Hansen, Juliane Theilade, Ruth Frikke-Schmidt, Paula L Hedley, Birgitte Stoevring, Ole Eschen, Poul E Bloch Thomsen, Jim Hansen, Trond P Leren, Jørgen K Kanters, Karina M Sørensen, Michael Christiansen   +56 more
core   +2 more sources

Fentanyl and Sudden Death—A Postmortem Perspective for Diagnosing and Predicting Risk

Diagnostics
Sudden, unexpected deaths are extremely difficult for families, especially when the victim is a child. Most sudden deaths occur due to cardiovascular issues, and a smaller number (approximately one-quarter) are attributed to other causes, such as ...
Ines Strenja, Elizabeta Dadić-Hero, Manuela Perković, Ivan Šoša   +3 more
doaj   +1 more source

Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.

Chinese medical journal, 2004
To determine mutations of two common potassium channel subunit genes KCNQ1, KCNH2 causing long QT syndrome (LQTS) in the Chinese.Thirty-one Chinese LQTS pedigrees were characterized for mutations in the two LQTS genes, KCNQ1 and KCNH2, by sequencing.Two novel KCNQ1 mutations, S277L in the S5 domain and G306V in the channel pore, and two novel KCNH2 ...
Wenling, Liu, Dayi, Hu, Cuilan, Li, Ping, Li, Yuntian, Li, Zhiming, Li, Lei, Li, Xuguang, Qin, Wei, Dong, Yu, Qi, Shenghan, Chen, Qing, Wang   +11 more
openaire   +2 more sources

Presentation_1_The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.pdf

, 2021
While rare mutations in ion channel genes are primarily responsible for inherited cardiac arrhythmias, common genetic variants are also an important contributor to the clinical heterogeneity observed among mutation carriers.
Albert Blanch-Asensio (11843780), Mervyn P. H. Mol (11843783), Richard P. Davis (11843786), Arie O. Verkerk (7342880), Lettine van den Brink (11843774), Karina O. Brandão (11843777), Loukia Yiangou (3159963), Christine L. Mummery (206109)   +7 more
core   +1 more source