Ion channel gene defects

Latest Articles

Article
Trigeminal Neuralgia TRPM8 MutationEnhanced Activation, Basal [Ca²⁺]_i and Menthol Response
Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, et al.

Neurology Genetics January 11, 2021
Article
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
Martin Paucar, Richard Ågren, Tianyi Li, et al.

Neurology Genetics January 06, 2021
Research
Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-controlled Trial
Carolin Muth, Julian Teufel, Ludger Schöls, et al.

Neurology: Clinical Practice December 03, 2020
Article
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Federica Malerba, Giulio Alberini, Ganna Balagura, et al.

Neurology Genetics December 02, 2020