A catalog of sodium channel variants to guide in the diagnosis of certain myotonic syndromes

An international consortium of researchers has catagorized, based on literature data, the biophysical and genetic characteristics of 437 sodium channel variants known to date (including the sodium channel encoded by the SCN4A gene):

  • 79 of them were related to a muscular phenotype (corresponding to a myotonic syndrome in most cases),
  • 141 variants corresponded to epileptic phenotypes, 149 to a cardiac phenotype, and 68 ultimately proved to be benign.

Available online and providing indications on the physiopathological mechanisms involved (gain or loss of function), this database of variants will allow to better target personalized therapies.


Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brunklaus A, Feng T, Brünger T, et al. Brain. 2022 Jan 17:awac006.