Results 161 to 170 of about 6,365 (192)

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
exaly   +3 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

KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome

Pediatrics International, 2005
Tohru, Takahashi, Satoshi, Tandai, Tsutomu, Toki, Takumi, Sato, Shuji, Eto, Akira, Sato, Tomomi, Ueda, Sumito, Sato, Kouta, Ichinose, Etsuro, Ito, Susumu, Yonesaka   +10 more
openaire   +2 more sources

KCNJ2 and the Andersen-Tawil Syndrome

2016
David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, Louis J. Ptáček   +3 more
openaire   +1 more source

Novel pathogenic variant in KCNJ2: an Andersen-Tawil syndrome case report

Molecular Genetics and Metabolism, 2021
Jisook Yim, Myungshin Kim
openaire   +1 more source

57. Neurophysiology in Andersen–Tawil syndrome with KCNJ2 mutation

Clinical Neurophysiology, 2009
Norito Kokubun, Momoka Nishibayashi, Tsubasa Sada, Takeshi Miyamoto, Hideo Yamanouchi, Koichi Hirata   +5 more
openaire   +1 more source