Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F22%3A00076091" target="_blank" >RIV/00159816:_____/22:00076091 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/22:00076091 RIV/00216224:14110/22:00126826
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S1525505022000130?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1525505022000130?via%3Dihub</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.yebeh.2022.108564" target="_blank" >10.1016/j.yebeh.2022.108564</a>
Alternative languages
Result language
angličtina
Original language name
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation
Original language description
Aim: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients. Methods: This single-center retrospective study included a total of 175 patients (95 males and 80 females) aged 0-19 years. They were examined between 2015 and 2020 using an NGS epilepsy gene panel (270 genes). A bioinformatic analysis was performed including copy number variation identification. Thorough genotype-phenotype correlation was performed. Results: Out of 175 patients, described pathogenic variants or novel variants with clear pathogenic impact were identified in 30 patients (17.14%). Genotype-phenotype correlations and parental DNA anal-ysis were performed, and genetic diagnosis was confirmed on the basis of the results in another 16 out of 175 patients (9.14%). The diagnostic yield of our study increased from 30 to 46 patients (by 53.33%) by the precise genotype-phenotype correlation. Interpretation: We emphasize a complex genotype-phenotype correlation and a multidisciplinary approach in evaluating the results of the NGS epilepsy gene panel, which enables the most accurate genetic diagnosis and correct interpretation of results.
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
30200 - Clinical medicine
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Epilepsy & Behavior
ISSN
1525-5050
e-ISSN
1525-5069
Volume of the periodical
128
Issue of the periodical within the volume
MAR
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
108564
UT code for WoS article
000761035600024
EID of the result in the Scopus database
2-s2.0-85122932096