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Title: Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
Austin Authors: Vadlamudi, Lata;Dibbens, Leanne M;Lawrence, Kate M;Iona, Xenia;McMahon, Jacinta M;Murrell, Wayne;Mackay-Sim, Alan;Scheffer, Ingrid E ;Berkovic, Samuel F 
Affiliation: Epilepsy Research Center, Austin Health, University of Melbourne, Melbourne, Victoria, Australia
Issue Date: 30-Sep-2010
Publication information: The New England Journal of Medicine; 363(14): 1335-40
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).
Gov't Doc #: 20879882
DOI: 10.1056/NEJMoa0910752
Journal: The New England Journal of Medicine
Type: Journal Article
Subjects: Adult
Epilepsies, Myoclonic.genetics
Frameshift Mutation
Genetic Markers
Germ-Line Mutation
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins.genetics
Polymerase Chain Reaction
Sequence Analysis, DNA
Sodium Channels.genetics
Time Factors
Twins, Monozygotic.genetics
Appears in Collections:Journal articles

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