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dc.contributor.authorVadlamudi, L.en
dc.contributor.authorDibbens, L.en
dc.contributor.authorLawrence, K.en
dc.contributor.authorIona, X.en
dc.contributor.authorMcMahon, J.en
dc.contributor.authorMurrell, W.en
dc.contributor.authorMackay-Sim, A.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorBerkovic, S.en
dc.identifier.citationNew England Journal of Medicine, 2010; 363(14):1335-1340en
dc.description.abstractDe 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).en
dc.description.statementofresponsibilityLata Vadlamudi, Leanne M. Dibbens, Kate M. Lawrence, Xenia Iona, Jacinta M. McMahon, Wayne Murrell, Alan Mackay-Sim, Ingrid E. Scheffer, and Samuel F. Berkovicen
dc.publisherMassachusetts Medical Socen
dc.rightsCopyright © 2010 Massachusetts Medical Society. All rights reserveden
dc.subjectHumans; 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 Channelen
dc.titleTiming of de novo mutagenesis - A twin study of sodium-channel mutationsen
dc.typeJournal articleen
pubs.library.collectionObstetrics and Gynaecology publicationsen
Appears in Collections:Obstetrics and Gynaecology publications

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