Timing of de novo mutagenesis - A twin study of sodium-channel mutations

Vadlamudi, Lata, Dibbens, Leanne M., Lawrence, Kate M., Iona, Xenia, McMahon, Jacinta M., Murrell, Wayne, Mackay-Sim, Alan, Scheffer, Ingrid E. and Berkovic, Samuel F. (2010) Timing of de novo mutagenesis - A twin study of sodium-channel mutations. New England Journal of Medicine, 363 14: 1335-1340. doi:10.1056/NEJMoa0910752

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Author Vadlamudi, Lata
Dibbens, Leanne M.
Lawrence, Kate M.
Iona, Xenia
McMahon, Jacinta M.
Murrell, Wayne
Mackay-Sim, Alan
Scheffer, Ingrid E.
Berkovic, Samuel F.
Title Timing of de novo mutagenesis - A twin study of sodium-channel mutations
Journal name New England Journal of Medicine   Check publisher's open access policy
ISSN 1533-4406
Publication date 2010-09-30
Sub-type Article (original research)
DOI 10.1056/NEJMoa0910752
Open Access Status File (Publisher version)
Volume 363
Issue 14
Start page 1335
End page 1340
Total pages 6
Editor Jeffrey M. Drazen
Gregory D. Curfman
Stephen Morrissey
Place of publication Boston, MA , U.S.
Publisher Massachusetts Medical Society
Language eng
Subject C1
1103 Clinical Sciences
Formatted 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).

Keyword Severe myoclonic epilepsy
Monozygotic twins
SCN1A Mutation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 48 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 53 times in Scopus Article | Citations
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Created: Sun, 17 Oct 2010, 10:04:39 EST