Article
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
Journal of medical genetics - 1 Sept 2020
Krenn Martin, Wagner Matias, Hotzy Christoph, Graf Elisabeth, Weber Sandrina, Brunet Theresa, Lorenz-Depiereux Bettina, Kasprian Gregor, Aull-Watschinger Susanne, Pataraia Ekaterina, Stogmann Elisabeth, Zimprich Alexander, Strom Tim M, Meitinger Thomas, Zimprich Fritz
Abstract excerpt
BACKGROUND: The genetic architecture of non-acquired focal epilepsies (NAFEs) becomes increasingly unravelled using genome-wide sequencing datasets. However, it remains to be determined how this emerging knowledge can be translated into a diagnostic setting. To bridge this gap, we assessed the diagnostic outcomes of exome sequencing (ES) in NAFE. METHODS: 112 deeply phenotyped patients with NAFE were included in...
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