Ion channel gene defects

Latest Articles

Null Hypothesis
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies
Joshua J. Todd, Tokunbor A. Lawal, Jessica W. Witherspoon, et al.

Neurology January 15, 2020
Case
Clinical manifestations of episodic ataxia type 5
Miguel González Sánchez, Silvia Izquierdo, Sara Álvarez, et al.

Neurology: Clinical Practice August 08, 2019
Case
Annual renal ultrasound may prevent acute presentation with acetazolamide-associated urolithiasis
Karen J. Suetterlin, Vinojini Vivekanandam, Natalie James, et al.

Neurology: Clinical Practice October 29, 2019
Article
Epilepsy with migrating focal seizuresKCNT1 mutation hotspots and phenotype variability
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.

Neurology Genetics October 25, 2019