Voltage-sensor mutations in channelopathies of skeletal muscle

Arginine Mutations in the S4 VSD of NaV1.4 Associated with Hypokalemic Periodic Paralysis, But Not with Paramyotonia, Create a Gating Pore Conductance

(2010) David Francis et al.   BIOPHYSICAL JOURNAL

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

(2009) Tie Ke et al.   JOURNAL OF HUMAN GENETICS

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

(2009) E. Matthews et al.   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

A naturally occurring omega current in a Kv3 family potassium channel from a platyhelminth

(2008) Tara L Klassen et al.   BMC NEUROSCIENCE

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Gating Pore Currents in DIIS4 Mutations of NaV1.4 Associated with Periodic Paralysis: Saturation of Ion Flux and Implications for Disease Pathogenesis

(2008) Arie F. Struyk et al.   JOURNAL OF GENERAL PHYSIOLOGY

Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis

(2008) S. Sokolov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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