Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Timing of de novo mutagenesis - A twin study of sodium-channel mutations|
|Citation:||New England Journal of Medicine, 2010; 363(14):1335-1340|
|Publisher:||Massachusetts Medical Soc|
|Lata Vadlamudi, Leanne M. Dibbens, Kate M. Lawrence, Xenia Iona, Jacinta M. McMahon, Wayne Murrell, Alan Mackay-Sim, Ingrid E. Scheffer, and Samuel F. Berkovic|
|Abstract:||De novo mutations are a cause of sporadic disease, but little is known about the developmental timing of such mutations. We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet’s syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may occur at any time, from the premorula stage of the embryo (causing disease in the subject) to adulthood (with mutations in the germ-line cells of parents causing disease in offspring).|
|Keywords:||Humans; Epilepsies, Myoclonic; Sodium Channels; Nerve Tissue Proteins; Genetic Markers; Polymerase Chain Reaction; Sequence Analysis, DNA; Mutagenesis; Twins, Monozygotic; Mutation; Frameshift Mutation; Germ-Line Mutation; Time Factors; Adult; Infant; Female; NAV1.1 Voltage-Gated Sodium Channel|
|Rights:||Copyright © 2010 Massachusetts Medical Society. All rights reserved|
|Appears in Collections:||Obstetrics and Gynaecology publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.