Ion channel gene defects

Latest Articles

Article
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
Tommy Stödberg, Måns Magnusson, Nicole Lesko, et al.

Neurology Genetics July 02, 2020
Resident & Fellow Section
Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder
Laurence Gauquelin, Cynthia Hawkins, Emily W.Y. Tam, et al.

Neurology March 13, 2020
Article
Movement disorders in patients with alternating hemiplegia“Soft” and “stiff” at the same time
Eleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.

Neurology March 02, 2020
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