Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies

Stridor as a Neonatal Presentation of Skeletal Muscle Sodium Channelopathy

(2011) Emma Matthews et al.   ARCHIVES OF NEUROLOGY

A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome

(2011) Takahiro Doi et al.   Circulation-Cardiovascular Genetics

Kir2.6 Regulates the Surface Expression of Kir2.x Inward Rectifier Potassium Channels

(2011) Lior Dassau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis

(2011) Torben Clausen et al.   JOURNAL OF GENERAL PHYSIOLOGY

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia

(2011) D. G. Francis et al.   NEUROLOGY

A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization

(2011) Akira Tsujino et al.   NEUROSCIENCE LETTERS

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

(2010) Devon P. Ryan et al.   CELL

Biophysical and Molecular Characterization of a Novel De Novo KCNJ2 Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry

(2010) Hector Barajas-Martinez et al.   Circulation-Cardiovascular Genetics

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

(2010) Dipa L Raja Rayan et al.   CURRENT OPINION IN NEUROLOGY

Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue

(2010) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies

(2010) Stephen C. Cannon et al.   JOURNAL OF CLINICAL INVESTIGATION

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents

(2010) Brian W. Jarecki et al.   JOURNAL OF CLINICAL INVESTIGATION

Relaxing messages from the sarcolemma: Figure 1.

(2010) Giovanni Zifarelli et al.   JOURNAL OF GENERAL PHYSIOLOGY

Chloride channels take center stage in a muscular drama

(2010) Christoph Fahlke   JOURNAL OF GENERAL PHYSIOLOGY

Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers

(2010) Marino DiFranco et al.   JOURNAL OF GENERAL PHYSIOLOGY

Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle

(2010) John D. Lueck et al.   JOURNAL OF GENERAL PHYSIOLOGY

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

(2010) Stanislav Sokolov et al.   JOURNAL OF GENERAL PHYSIOLOGY

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome

(2010) Hoi-Fong Chan et al.   JOURNAL OF HUMAN GENETICS

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis

(2010) Araya Puwanant et al.   MUSCLE & NERVE

VOLTAGE SENSOR CHARGE LOSS ACCOUNTS FOR MOST CASES OF HYPOKALEMIC PERIODIC PARALYSIS

(2010) R. L. Ruff et al.   NEUROLOGY

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder

(2010) L. Lion-Francois et al.   NEUROLOGY

Sodium channelopathies of skeletal muscle result from gain or loss of function

(2010) Karin Jurkat-Rott et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Kir 2.1 channelopathies: the Andersen–Tawil syndrome

(2010) Martin Tristani-Firouzi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

(2010) Jörg Striessnig et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Comparison of regulated passive membrane conductance in action potential–firing fast- and slow-twitch muscle

(2009) Thomas Holm Pedersen et al.   JOURNAL OF GENERAL PHYSIOLOGY

Regulation of ClC-1 and KATPchannels in action potential–firing fast-twitch muscle fibers

(2009) Thomas Holm Pedersen et al.   JOURNAL OF GENERAL PHYSIOLOGY

Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita

(2009) Viviane P. Muniz et al.   MUSCLE & NERVE

Homozygosity for dominant mutations increases severity of muscle channelopathies

(2009) Marianne Arzel-hézode et al.   MUSCLE & NERVE

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

(2009) E. Matthews et al.   NEUROLOGY

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

(2009) June-Bum Kim et al.   PEDIATRIC NEUROLOGY

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

(2009) K. Jurkat-Rott et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

(2008) T. Suominen et al.   JOURNAL OF NEUROLOGY

Paradoxical depolarization of BA2+- treated muscle exposed to low extracellular K+: Insights into resting potential abnormalities in hypokalemic paralysis

(2007) Arie F. Struyk et al.   MUSCLE & NERVE