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https://hdl.handle.net/2440/62058
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Type: | Journal article |
Title: | Timing of de novo mutagenesis - A twin study of sodium-channel mutations |
Author: | Vadlamudi, L. Dibbens, L. Lawrence, K. Iona, X. McMahon, J. Murrell, W. Mackay-Sim, A. Scheffer, I. Berkovic, S. |
Citation: | New England Journal of Medicine, 2010; 363(14):1335-1340 |
Publisher: | Massachusetts Medical Soc |
Issue Date: | 2010 |
ISSN: | 0028-4793 1533-4406 |
Statement of Responsibility: | 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 |
DOI: | 10.1056/NEJMoa0910752 |
Published version: | http://dx.doi.org/10.1056/nejmoa0910752 |
Appears in Collections: | Aurora harvest Obstetrics and Gynaecology publications |
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