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.

Základní údaje

Originální název

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

Autoři

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.600

Kód RIV

RIV/00216224:14110/22:00126826

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.yebeh.2022.108564

UT WoS

000761035600024

EID Scopus

2-s2.0-85122932096

Klíčová slova anglicky

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

Štítky

14110127, 14110212, 14110320, 14110323, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 12. 8. 2025 08:48, Mgr. Eva Dubská

Anotace

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.

Návaznosti

ROZV/28/LF6/2020, interní kód MU

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

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Etiopatogeneze poruch autistického spektra (PAS): genetické a neuroimunologické aspekty, Interní rozvojové projekty

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 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://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 = {https://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://doi.org/10.1016/j.yebeh.2022.108564.

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