Condition: MYASTHENIC SYNDROME, CONGENITAL, 16


rs121908553 in SCN4A gene and MYASTHENIC SYNDROME, CONGENITAL, 16 PMID 26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PMID 25707578 2015 Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.