Title |
Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations
|
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Published in |
New England Journal of Medicine, September 2010
|
DOI | 10.1056/nejmoa0910752 |
Pubmed ID | |
Authors |
Lata Vadlamudi, Leanne M Dibbens, Kate M Lawrence, Xenia Iona, Jacinta M McMahon, Wayne Murrell, Alan Mackay-Sim, Ingrid E Scheffer, Samuel F Berkovic |
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). |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 1 | 33% |
United States | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 1% |
Germany | 1 | <1% |
South Africa | 1 | <1% |
New Zealand | 1 | <1% |
Belgium | 1 | <1% |
Japan | 1 | <1% |
United States | 1 | <1% |
Unknown | 134 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 31 | 22% |
Student > Ph. D. Student | 20 | 14% |
Other | 14 | 10% |
Student > Bachelor | 13 | 9% |
Professor | 11 | 8% |
Other | 41 | 29% |
Unknown | 12 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 51 | 36% |
Agricultural and Biological Sciences | 34 | 24% |
Biochemistry, Genetics and Molecular Biology | 18 | 13% |
Neuroscience | 8 | 6% |
Unspecified | 6 | 4% |
Other | 6 | 4% |
Unknown | 19 | 13% |