De novo variants in neurodevelopmental disorders with epilepsy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10377746" target="_blank" >RIV/00216208:11130/18:10377746 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10377746
Result on the web
<a href="https://doi.org/10.1038/s41588-018-0143-7" target="_blank" >https://doi.org/10.1038/s41588-018-0143-7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41588-018-0143-7" target="_blank" >10.1038/s41588-018-0143-7</a>
Alternative languages
Result language
angličtina
Original language name
De novo variants in neurodevelopmental disorders with epilepsy
Original language description
Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent-offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature Genetics
ISSN
1061-4036
e-ISSN
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Volume of the periodical
50
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
1048-1053
UT code for WoS article
000437224400020
EID of the result in the Scopus database
2-s2.0-85049011462