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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
Statement of
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
RMID: 0020100988
DOI: 10.1056/NEJMoa0910752
Appears in Collections:Obstetrics and Gynaecology publications

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