Next-generation sequencing in children with epilepsy: The
importance of precise genotype–phenotype correlation

J 2022

Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

HORÁK, Ondřej, Martina BUREŠOVÁ, Senad KOLÁŘ, Klára ŠPANĚLOVÁ, Barbora JEŘÁBKOVÁ et. al.

Basic information

Original name

Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

Authors

HORÁK, Ondřej (203 Czech Republic, belonging to the institution), Martina BUREŠOVÁ (203 Czech Republic, belonging to the institution), Senad KOLÁŘ (203 Czech Republic, belonging to the institution), Klára ŠPANĚLOVÁ (203 Czech Republic, belonging to the institution), Barbora JEŘÁBKOVÁ (203 Czech Republic, belonging to the institution), Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution), Katarína ČESKÁ (703 Slovakia, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Jana ŠOUKALOVÁ (203 Czech Republic, belonging to the institution), Jana ZÍDKOVÁ (203 Czech Republic, belonging to the institution), Lenka FAJKUSOVÁ (203 Czech Republic, belonging to the institution), Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution), Ivan REKTOR (203 Czech Republic, belonging to the institution) and Pavlína DANHOFER (203 Czech Republic, guarantor, belonging to the institution)

Edition

EPILEPSY & BEHAVIOR, SAN DIEGO, ACADEMIC PRESS INC ELSEVIER SCIENCE, 2022, 1525-5050

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.600

RIV identification code

RIV/00216224:14110/22:00126826

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.yebeh.2022.108564

UT WoS

000761035600024

Keywords in English

Epilepsy; Genetic testing; Children; Next-generation sequencing; Precise medicine

Abstract

V originále

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.

Links

ROZV/28/LF6/2020, interní kód MU

Name: Etiopatogeneze poruch autistického spektra (PAS): genetické a neuroimunologické aspekty

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

Citovat

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 and 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, vol. 128, March 2022, p. 1-6. ISSN 1525-5050. Available from: https://dx.doi.org/10.1016/j.yebeh.2022.108564.

@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 and 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, vol.~128, March 2022, p.~1-6. ISSN~1525-5050. Available from: https://dx.doi.org/10.1016/j.yebeh.2022.108564.

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