Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Sarah BaerAudrey SchalkMarguerite MiguetÉlise SchaeferSalima El ChehadehEmmanuelle GinglingerAnne de Saint MartinMarie-Thérèse Abi WardéVincent LaugelYvan de FeraudyLucas GauerEdouard HirschClotilde BoulayClaire BanseptAnamaria BolocanIsmini KitadinisAurélie GouroncBénédicte GérardAmélie PitonSophie Scheidecker

Published in: Pediatric neurology (2024)

CMA remains a viable option as the first-line genetic test in cases where other genetic tests are not available and as a second-line diagnostic technique if gene panel or exome sequencing yields negative results.

Keyphrases

copy number
mitochondrial dna
genome wide
high throughput sequencing
dna methylation
single cell
cross sectional
gene expression
double blind