Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Epilepsy Behav
; 128: 108564, 2022 03.
Article
en En
| MEDLINE
| ID: mdl-35065395
ABSTRACT
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 0-19â¯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 analysis 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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Epilepsia
/
Variaciones en el Número de Copia de ADN
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Epilepsy Behav
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
República Checa