Condition: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
rs587780455
in
SCN8A
gene and
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
PMID 27210545
2016 Autosomal dominant SCN8A mutation with an unusually mild phenotype.
PMID 26677014
2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
PMID 24874546
2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.