Ontology highlight
ABSTRACT:
SUBMITTER: Guella I
PROVIDER: S-EPMC5544417 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Guella Ilaria I McKenzie Marna B MB Evans Daniel M DM Buerki Sarah E SE Toyota Eric B EB Van Allen Margot I MI Suri Mohnish M Elmslie Frances F Simon Marleen E H MEH van Gassen Koen L I KLI Héron Delphine D Keren Boris B Nava Caroline C Connolly Mary B MB Demos Michelle M Farrer Matthew J MJ
American journal of human genetics 20170801 2
Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data ...[more]