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Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients. [PDF]

Orphanet J Rare Dis
Yang J, Li K, Liu F, Kong L, Liu Y, She F, He R, Lv T, Liu F, Zhang P.   +9 more
europepmc   +1 more source

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus. [PDF]

HGG Adv
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E.   +22 more
europepmc   +1 more source

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Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome

Journal of the Neurological Sciences, 2019
Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy with autosomal dominant inheritance resulting in periodic paralysis, arrhythmia characterized by QT prolongation, and dysmorphic features. The KCNJ2 gene has been identified as the causative gene of ATS.
Shinobu Fukumura, Tomoya Kubota, Masanori P Takahashi   +2 more
exaly   +3 more sources

Loss-of-function mutations of the K+ channel gene KCNJ2 constitute a rare cause of long QT syndrome

Journal of Molecular and Cellular Cardiology, 2004
Mutations of the KCNJ2 gene encoding the potassium channel Kir2.1 were previously shown to cause Andersen's syndrome (AS), a multisystem disease manifesting with developmental abnormalities, cardiac arrhythmias and periodic paralyses. We conducted a search for KCNJ2 mutations among 188 unrelated patients suspected to have long QT syndrome (LQTS).
Johannes Loffing
exaly   +3 more sources

Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome

Pediatric Neurology, 2009
Andersen-Tawil syndrome is a rare autosomal-dominant disease characterized by episodic muscle weakness, cardiac arrhythmias, and dysmorphic features. Mutations in the KCNJ2 gene (which encodes an inward-rectifying potassium channel protein, Kir2.1) have been reported to be responsible for this disorder.
June-Bum Kim
exaly   +3 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

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype

Basic Research in Cardiology, 2013
Andersen-Tawil syndrome (ATS) is characterized by dysmorphic features, periodic paralyses and abnormal ventricular repolarization. After genotyping a large set of patients with congenital long-QT syndrome, we identified two novel, heterozygous KCNJ2 mutations (p.N318S, p.W322C) located in the C-terminus of the Kir2.1 subunit.
Maren M, Limberg, Sven, Zumhagen, Michael F, Netter, Alison J, Coffey, Andrew, Grace, Jane, Rogers, Doris, Böckelmann, Susanne, Rinné, Birgit, Stallmeyer, Niels, Decher, Eric, Schulze-Bahr   +10 more
openaire   +2 more sources

Mutation in KCNJ2 Gene in a Boy with Atypical Features of Andersen–Tawil Syndrome, ADHD, and ASD: An Expanding Phenotype

Journal of Pediatric Neurology, 2020
AbstractAndersen–Tawil syndrome, a potassium ion channelopathy, is caused by mutations in the KCNJ2 gene, and accounts for approximately 10% of channelopathies. Phenotype is variable. An 11-year-old boy presented with periodic paralysis without localizing neurological signs, associated in only two of three occasions with hypokalemia, on a background of
Ala Fadilah, Santosh R. Mordekar, Sona Matthai   +2 more
openaire   +1 more source