PMID 1338909 1992 Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
PMID 1310898 1992 Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
PMID 10369308 1999 A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
PMID 15318338 2004 Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
PMID 18690054 2008 Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
PMID 16786525 2006 Cold extends electromyography distinction between ion channel mutations causing myotonia.
PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.