Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

Martin KrennMatias WagnerChristoph HotzyElisabeth GrafSandrina WeberTheresa BrunetBettina Lorenz-DepiereuxGregor KasprianSusanne Aull-WatschingerEkaterina PataraiaElisabeth StogmannAlexander ZimprichTim M StromThomas MeitingerFritz Zimprich

Published in: Journal of medical genetics (2020)

This study underscores the molecular heterogeneity of NAFE with GATOR1 complex genes representing the by far most relevant genetic aetiology known to date. Although the diagnostic yield is lower compared with severe early-onset epilepsies, the high rate of VUSs and candidate variants suggests a further increase in future years.

Keyphrases

early onset
genome wide
copy number
late onset
single cell
bioinformatics analysis
dna methylation
genome wide identification
current status
genome wide analysis
gene expression