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dc.contributor.authorE. Scheffer, Ingriden_US
dc.contributor.authorF. Berkovic, Samuelen_US
dc.contributor.authorIona, Xeniaen_US
dc.contributor.authorM. Dibbens, Leanneen_US
dc.contributor.authorM. Lawrence, Kateen_US
dc.contributor.authorM. McMahon, Jacintaen_US
dc.contributor.authorMackay-Sim, Alanen_US
dc.contributor.authorMurrell, Wayneen_US
dc.contributor.authorVadlamudi, Lataen_US
dc.contributor.editorJeffrey M. Drazen, Gregory D. Curfman,Stephen Morrisseyen_US
dc.date.accessioned2017-04-04T21:37:14Z
dc.date.available2017-04-04T21:37:14Z
dc.date.issued2010en_US
dc.date.modified2011-02-15T12:56:34Z
dc.identifier.issn00284793en_US
dc.identifier.doi10.1056/NEJMoa0910752en_AU
dc.identifier.urihttp://hdl.handle.net/10072/36271
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 a1 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_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_AU
dc.languageEnglishen_US
dc.language.isoen_AU
dc.publisherMassachusetts Medical Societyen_US
dc.publisher.placeUnited Statesen_US
dc.relation.ispartofstudentpublicationNen_AU
dc.relation.ispartofpagefrom1335en_US
dc.relation.ispartofpageto1340en_US
dc.relation.ispartofissue14en_AU
dc.relation.ispartofjournalThe New England Journal of Medicineen_US
dc.relation.ispartofvolume363en_US
dc.rights.retentionNen_AU
dc.subject.fieldofresearchMedical Genetics (excl. Cancer Genetics)en_US
dc.subject.fieldofresearchNeurology and Neuromuscular Diseasesen_US
dc.subject.fieldofresearchcode110311en_US
dc.subject.fieldofresearchcode110904en_US
dc.titleTiming of De Novo mutagenesis - a twin study of sodium-channel mutationsen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.date.issued2010
gro.hasfulltextNo Full Text


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