A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10424845" target="_blank" >RIV/00216208:11130/21:10424845 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/21:10424845
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1pRvU5ts2p" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1pRvU5ts2p</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.62116" target="_blank" >10.1002/ajmg.a.62116</a>
Alternative languages
Result language
angličtina
Original language name
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
Original language description
We read with interest the report by Kanani et al. describing the causality of de novo YWHAG missense variants in developmental and epileptic encephalopathies (DEE). This study presents an overview of the patient's phenotype and summarizes so far published findings in association with neurological conditions. In our study, we describe a patient with a novel variant in the YWHAG gene that has a very similar phenotype, but co-presenting with attention deficit hyperactivity disorder (ADHD) syndrome, which we believe has not been reported previously. Therefore, our observations extend further the list of causal variants.
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
<a href="/en/project/NU20-04-00279" target="_blank" >NU20-04-00279: Epilepsy genetics: To solve unsolvable cases with combined OMICs tools</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics: Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
185
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
3
Pages from-to
1363-1365
UT code for WoS article
000618109600001
EID of the result in the Scopus database
2-s2.0-85101430133