Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA.
Vatta M, et al. Among authors: brugada r, brugada p, brugada j.
Hum Mol Genet. 2002 Feb 1;11(3):337-45. doi: 10.1093/hmg/11.3.337.
Hum Mol Genet. 2002.
PMID: 11823453
Mutations were identified in SCN5A in three families. One mutation, R367H, lies in the first P segment of the pore-lining region between the DIS5 and DIS6 transmembrane segments of SCN5A. ...Both mutations resulted in reduced sodium channel current (I(Na)) at a time corres …
Mutations were identified in SCN5A in three families. One mutation, R367H, lies in the first P segment of the pore-lining region betw …