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dc.contributor.authorVadlamudi, Lata
dc.contributor.authorDibbens, Leanne M
dc.contributor.authorLawrence, Kate M
dc.contributor.authorIona, Xenia
dc.contributor.authorMcMahon, Jacinta M
dc.contributor.authorMurrell, Wayne
dc.contributor.authorMackay-Sim, Alan
dc.contributor.authorScheffer, Ingrid E
dc.contributor.authorBerkovic, Samuel F
dc.contributor.editorJeffrey M. Drazen, Gregory D. Curfman,Stephen Morrissey
dc.date.accessioned2018-09-04T03:49:24Z
dc.date.available2018-09-04T03:49:24Z
dc.date.issued2010
dc.date.modified2011-02-15T12:56:34Z
dc.identifier.issn0028-4793
dc.identifier.doi10.1056/NEJMoa0910752
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).
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherMassachusetts Medical Society
dc.publisher.placeUnited States
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom1335
dc.relation.ispartofpageto1340
dc.relation.ispartofissue14
dc.relation.ispartofjournalThe New England Journal of Medicine
dc.relation.ispartofvolume363
dc.rights.retentionN
dc.subject.fieldofresearchMedical Genetics (excl. Cancer Genetics)
dc.subject.fieldofresearchNeurology and Neuromuscular Diseases
dc.subject.fieldofresearchMedical and Health Sciences
dc.subject.fieldofresearchcode110311
dc.subject.fieldofresearchcode110904
dc.subject.fieldofresearchcode11
dc.titleTiming of De Novo mutagenesis - a twin study of sodium-channel mutations
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dc.description.versionVersion of Record (VoR)
gro.rights.copyright© 2010 Massachusetts Medical Society. The attached file is reproduced here in accordance with the copyright policy of the publisher. Please refer to the journal's website for access to the definitive, published version.
gro.date.issued2010
gro.hasfulltextFull Text
gro.griffith.authorMackay-Sim, Alan
gro.griffith.authorMurrell, Wayne G.


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