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Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
- Source :
-
The New England journal of medicine [N Engl J Med] 2010 Sep 30; Vol. 363 (14), pp. 1335-40. - Publication Year :
- 2010
-
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).
- Subjects :
- Adult
Female
Frameshift Mutation
Genetic Markers
Germ-Line Mutation
Humans
Infant
Mutagenesis
NAV1.1 Voltage-Gated Sodium Channel
Polymerase Chain Reaction
Sequence Analysis, DNA
Time Factors
Epilepsies, Myoclonic genetics
Mutation
Nerve Tissue Proteins genetics
Sodium Channels genetics
Twins, Monozygotic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1533-4406
- Volume :
- 363
- Issue :
- 14
- Database :
- MEDLINE
- Journal :
- The New England journal of medicine
- Publication Type :
- Academic Journal
- Accession number :
- 20879882
- Full Text :
- https://doi.org/10.1056/NEJMoa0910752