Timing of De Novo mutagenesis - a twin study of sodium-channel mutations

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Title Timing of De Novo mutagenesis - a twin study of sodium-channel mutations
Author Vadlamudi, Lata; Dibbens, Leanne M.; Lawrence, Kate M.; Iona, Xenia; McMahon, Jacinta M.; Murrell, Wayne George; Mackay-Sim, Alan; Scheffer, Ingrid E.; Berkovic, Samuel F.
Journal Name The New England Journal of Medicine
Editor Jeffrey M. Drazen, Gregory D. Curfman,Stephen Morrissey
Year Published 2010
Place of publication United States
Publisher Massachusetts Medical Society
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).
Peer Reviewed Yes
Published Yes
Alternative URI http://dx.doi.org/10.1056/NEJMoa0910752
Volume 363
Issue Number 14
Page from 1335
Page to 1340
ISSN 0028-4793
Date Accessioned 2010-11-12
Language en_AU
Research Centre Eskitis Institute for Drug Discovery
Faculty Faculty of Science, Environment, Engineering and Technology
Subject Medical Genetics (excl Cancer Genetics); Neurology and Neuromuscular Diseases
URI http://hdl.handle.net/10072/36271
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1

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