| HORÁK, Ondřej, Martina BUREŠOVÁ, Senad KOLÁŘ, Klára ŠPANĚLOVÁ, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ, Katarína ČESKÁ, Kamila RÉBLOVÁ, Jana ŠOUKALOVÁ, Jana ZÍDKOVÁ, Lenka FAJKUSOVÁ, Hana OŠLEJŠKOVÁ, Ivan REKTOR a Pavlína DANHOFER. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation. EPILEPSY & BEHAVIOR. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE, 2022, roč. 128, March 2022, s. 1-6. ISSN 1525-5050. Dostupné z: https://dx.doi.org/10.1016/j.yebeh.2022.108564. |
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@article{2223041,
author = {Horák, Ondřej and Burešová, Martina and Kolář, Senad and Španělová, Klára and Jeřábková, Barbora and Gaillyová, Renata and Česká, Katarína and Réblová, Kamila and Šoukalová, Jana and Zídková, Jana and Fajkusová, Lenka and Ošlejšková, Hana and Rektor, Ivan and Danhofer, Pavlína},
article_location = {SAN DIEGO},
article_number = {March 2022},
doi = {http://dx.doi.org/10.1016/j.yebeh.2022.108564},
keywords = {Epilepsy; Genetic testing; Children; Next-generation sequencing; Precise medicine},
language = {eng},
issn = {1525-5050},
journal = {EPILEPSY & BEHAVIOR},
title = {Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation},
url = {https://www.sciencedirect.com/science/article/pii/S1525505022000130},
volume = {128},
year = {2022}
}
TY - JOUR
ID - 2223041
AU - Horák, Ondřej - Burešová, Martina - Kolář, Senad - Španělová, Klára - Jeřábková, Barbora - Gaillyová, Renata - Česká, Katarína - Réblová, Kamila - Šoukalová, Jana - Zídková, Jana - Fajkusová, Lenka - Ošlejšková, Hana - Rektor, Ivan - Danhofer, Pavlína
PY - 2022
TI - Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation
JF - EPILEPSY & BEHAVIOR
VL - 128
IS - March 2022
SP - 1-6
EP - 1-6
PB - ACADEMIC PRESS INC ELSEVIER SCIENCE
SN - 15255050
KW - Epilepsy
KW - Genetic testing
KW - Children
KW - Next-generation sequencing
KW - Precise medicine
UR - https://www.sciencedirect.com/science/article/pii/S1525505022000130
N2 - 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 identifica-tion. 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.
ER -
HORÁK, Ondřej, Martina BUREŠOVÁ, Senad KOLÁŘ, Klára ŠPANĚLOVÁ, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ, Katarína ČESKÁ, Kamila RÉBLOVÁ, Jana ŠOUKALOVÁ, Jana ZÍDKOVÁ, Lenka FAJKUSOVÁ, Hana OŠLEJŠKOVÁ, Ivan REKTOR a Pavlína DANHOFER. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation. \textit{EPILEPSY \&{} BEHAVIOR}. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE, 2022, roč.~128, March 2022, s.~1-6. ISSN~1525-5050. Dostupné z: https://dx.doi.org/10.1016/j.yebeh.2022.108564.
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