Results 131 to 140 of about 6,848 (166)

Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review. [PDF]

BMC Pediatr
Jin M, Yang F, Du Y, Zhao L, Zhao X, Liu J, Zhang J, Sun S.   +7 more
europepmc   +1 more source

Dental drugs with proarrhythmic risk in patients with Brugada syndrome: precaution instructions for practices in the field of orofacial pain. [PDF]

Front Cardiovasc Med
Han D, Cho NY, Cho ES, Roh SY.
europepmc   +1 more source

Different Causes of a Transient Loss of Consciousness with Convulsions between Two Young Sisters: Epilepsy and Type-2 Long QT Syndrome. [PDF]

Intern Med
Hasegawa H, Nakajima T, Kawauchi H, Miyagishima T, Kawabata-Iwakawa R, Tamura S, Kobari T, Nishiyama M, Kurabayashi M, Kaneko Y, Nakatani Y, Ishii H.   +11 more
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Gene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications. [PDF]

Med Sci (Basel)
Karakasis P, Theofilis P, Vlachakis PK, Milaras N, Kalinderi K, Patoulias D, Antoniadis AP, Fragakis N.   +7 more
europepmc   +1 more source

XPRESSO: Rapid genetic engineering of human pluripotent stem cells for durable overexpression using a modular anti-silencing vector. [PDF]

Stem Cell Reports
Wexler Y, Grinstein H, Huber I, Glatstein S, Ghiringhelli M, Edri O, Landesberg M, Shiff D, Arbel G, Rosh I, Choudhary A, Stern S, Gepstein L.   +12 more
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Translational medicine research on the role of key gene network modulation mediated by procyanidin B2 in the precise diagnosis and treatment of multiple sclerosis. [PDF]

J Transl Med
Liu J, Pu M, Guo D, Xiao Y, Yin JZ, Ma D, Ma CG, Wang Q.   +7 more
europepmc   +1 more source

Case Report of Long QT Syndrome in a Patient With Syncope. [PDF]

Kaohsiung J Med Sci
Chen CY, Wang RX, Weng KP, Huang SM.
europepmc   +1 more source

Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment. [PDF]

Epilepsy Curr
Wenker IC, Gehlbach BK, Isom LL, Dlouhy BJ, Auerbach DS, Maguire JL, Boychuk CR.   +6 more
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Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.

Human Molecular Genetics, 2023
BACKGROUND The c.453delC (p.Thr152Profs*14) frameshift mutation in KCNH2 is associated with an elevated risk of Long QT syndrome (LQTS) and fatal arrhythmia.
Na-Kyeong Park, Soon-Jung Park, Yun-Gwi Park, Sung-Hwan Moon, J. Woo, Hyun Jong Kim, Sung Joon Kim, S. Choi   +7 more
semanticscholar   +1 more source

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

medRxiv
BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant classification is difficult, often because of lack of functional data.
M. O’Neill, Chai-Ann Ng, T. Aizawa, Luca Sala, S. Bains, A. Winbo, Rizwan Ullah, Qianyi Shen, Chek-ying Tan, Krystian Kozek, Loren Vanags, Devyn W. Mitchell, Alex Shen, Yuko Wada, A. Kashiwa, L. Crotti, F. Dagradi, Giulia Musu, C. Spazzolini, R. Neves, J. Bos, J. Giudicessi, X. Bledsoe, E. Gamazon, M. Lancaster, A. Glazer, Bjorn C. Knollmann, D. Roden, Jochen Weile, Frederick P. Roth, Joe-Elie Salem, Nikki J. Earle, R. Stiles, Taylor Agee, Christopher N. Johnson, Minoru Horie, Jonathan R. Skinner, Michael J. Ackerman, P. Schwartz, S. Ohno, J. I. Vandenberg, B. Kroncke   +41 more
semanticscholar   +1 more source