Results 121 to 130 of about 3,487 (142)

Polymorphic ventricular tachycardia and KCNJ2 mutations

Heart Rhythm, 2004
We sought to identify the electrophysiologic basis of life-threatening events associated with polymorphic ventricular tachycardia (PVT) in young patients with heterozygous KCNJ2 mutations. PVT describes a beat-to-beat alternating QRS axis and morphology during ventricular tachycardia.
Terrence U H, Chun, Michael R, Epstein, Macdonald, Dick, Gregor, Andelfinger, Leomar, Ballester, Carlos G, Vanoye, Alfred L, George, D Woodrow, Benson   +7 more
openaire   +2 more sources

Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation

Heart Rhythm, 2007
We report the first case of a patient with Andersen syndrome in whom electrophysiologic study was performed. The patient was a 19-year-old woman with familial periodic paralysis, abnormal QT-U complex, and nonsustained ventricular tachycardia. Mutation analysis revealed a missense mutation in KCNJ2, a component of Kir2.1.
Satoshi, Nagase, Kengo Fukushima, Kusano, Masashi, Yoshida, Tohru, Ohe   +3 more
openaire   +2 more sources

Inhibition of Kir2.1 (KCNJ2) by the AMP-activated protein kinase

Biochemical and Biophysical Research Communications, 2011
The inward rectifier K(+) channel Kir2.1 participates in the maintenance of the cell membrane potential in a variety of cells including neurons and cardiac myocytes. Mutations of KCNJ2 encoding Kir2.1 underlie the Andersen-Tawil syndrome, a rare disorder clinically characterized by periodic paralysis, cardiac arrhythmia and skeletal abnormalities.
Alesutan, Ioana, Munoz, Carlos, Sopjani, Mentor, Dermaku-Sopjani, Miribane, Michael, Diana, Fraser, Scott, Kemp, Bruce, Seebohm, Guiscard, Foller, Michael, Lang, Florian   +9 more
openaire   +4 more sources

Investigation of Missense Mutations in KCNJ2 Gene: A Computational Approach

Research Journal of Pharmacy and Technology, 2015
Though gene are already known to be responsible for ATS, but the knowledge of missense mutation that disease gene have still to be under covered. The present study has focused aims to address this issue particularly in KCNJ2 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2) gene aid of computational approach. Initially 64 missense mutation
Kanika Verma, V. Shanthi, K. Ramanathan
openaire   +1 more source

KCNJ2 and the Andersen–Tawil Syndrome

2008
Abstract Andersen–Tawil syndrome (ATS) (OMIM 170390) is a rare auto- somadominant disorder characterized by the triad of dysmorphic features, prolonged QT intervals with ventricular dysrhythmias, and episodic paralysis (Tawil et al., 1994; Sansone et al., 1997; Canún et al., 1999).
David R Renner, Rabi Tawil, Martin Tristani-Firouzi,, Louis J Ptácˇ Ek   +3 more
openaire   +1 more source

KCNJ2 Variant of Unknown Significance Reclassified as Long QT Syndrome Causing Ventricular Fibrillation

Canadian Journal of Cardiology, 2011
KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome. We present an unreported variant in the KCNJ2 gene, associated with long QT syndrome, that presented with ventricular fibrillation ...
Manoj N, Obeyesekere, George J, Klein, Susan, Conacher, Andrew D, Krahn   +3 more
openaire   +2 more sources

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

Journal of Molecular and Cellular Cardiology, 2003
Andersen's syndrome (AS) (which is characterized by periodic paralysis, cardiac arrhythmias and dysmorphic features), a hereditary disease, and missense mutations of KCNJ2 (which encodes an inward rectifying potassium channel) have been reported recently.
Yukio, Hosaka, Haruo, Hanawa, Takashi, Washizuka, Masaomi, Chinushi, Fumio, Yamashita, Tsuyoshi, Yoshida, Satoru, Komura, Hiroshi, Watanabe, Yoshifusa, Aizawa   +8 more
openaire   +2 more sources

Novel KCNJ2 mutation associated with Andersen-Tawil syndrome: Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil:

2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns inelectrocardiogram, periodic paralysis, and dysmorphic features. We describe a patient of Slovenian origin who exhibited mild dysmorphic features, repetitive bidirectional and monomorphic ventricular ...
Antolič, Bor, Debeljak, Maruša, Jan, Matevž, Kovač, Jernej, Pernat, Andrej, Šinkovec, Matjaž, Trebušak Podkrajšek, Katarina   +6 more
openaire   +1 more source

Phenotypic Findings in Patients With KCNJ2 -Related Anderson-Tawil Syndrome

Neurology, 2022
Meabh, O'Hare, Reza, Sadjadi
openaire   +2 more sources

A novel missense KCNJ2 gene mutation associated with andersen tawil syndrome

2019
European Society of Human ...
Sözügüzel, Mavi Deniz, Işık, Fatma Büşra, Genç, Nimetullah Mete, Çaralan, E. F., Doğru, Zübeyir, Akdeniz, Coşkun, Cangül, Hakan   +6 more
openaire   +2 more sources