Ion channel gene defects

Latest Articles

Editorial
Muscle at the junctionWhere next generation sequencing is sending us
Nicholas E. Johnson, Russell Butterfield

Neurology March 01, 2019
Article
Myasthenic congenital myopathy from recessive mutations at a single residue in Na_V1.4
Nathaniel Elia, Johanna Palmio, Marisol Sampedro Castañeda, et al.

Neurology March 01, 2019
Clinical/Scientific Notes
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
Christine K. Sloth, Federico Denti, Nicole Schmitt, et al.

Neurology Genetics September 19, 2018
Article
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation
Nadine Pelzer, Joost Haan, Anine H. Stam, et al.

Neurology January 17, 2018