Assessment of burden and segregation profiles of CNVs in patients with epilepsy.

Claudia MoreauFrédérique TremblayStefan WolkingAlexandre GirardCatherine Laprise Fadi F HamdanJacques L MichaudBerge A MinassianPatrick CossetteSimon L Girard

Published in: Annals of clinical and translational neurology (2022)

We could corroborate previous findings of an enrichment of large microdeletions and deletions in epilepsy genes in GGE. We could also replicate that microdeletions show incomplete penetrance. However, we could not validate the hypothesis of unmasked variants nor the hypothesis of double CNVs to explain the incomplete penetrance. We found a de novo CNV on 22q11.2 that could be of interest. We also observed GGE families carrying a deletion on 15q13.3 hotspot that could be investigated in the Quebec founder population.

Keyphrases

copy number
genome wide
atomic force microscopy
risk factors
gene expression
high resolution