Associated Papers
Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.
Anderson CL et al.
The Journal of Biological Chemistry, 2026
Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Vivekanandam V et al.
Muscle & Nerve, 2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Vivekanandam V et al.
Brain : a Journal of Neurology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide.
Nagamine S et al.
Journal of the Neurological Sciences, 2014
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
Limberg MM et al.
Basic Research in Cardiology, 2013
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.
Tan SV et al.
Muscle & Nerve, 2012
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
Barajas-Martinez H et al.
Circulation. Cardiovascular Genetics, 2011
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.
Sacconi S et al.
American Journal of Physiology. Cell Physiology, 2009
Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.
Decher N et al.
Cardiovascular Research, 2007
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
Bendahhou S et al.
Human Molecular Genetics, 2007
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
Eckhardt LL et al.
Heart Rhythm, 2007
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
Zhang L et al.
Circulation, 2005
Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction.
Schulze-Bahr E
Circulation Research, 2005
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
Bendahhou S et al.
The Journal of Biological Chemistry, 2003
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR et al.
Neurology, 2003
The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating.
Fallen K et al.
Channels (austin, Tex.), 0
[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].
Márquez MF et al.
Archivos De Cardiologia De Mexico, 0