De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

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 of 42 subjects with EE and n o previous genetic diagnosis.

Source: The American Journal of Human Genetics - August 3, 2017 Category: Genetics & Stem Cells Authors: Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric B. Toyota, Margot I. Van Allen, Epilepsy Genomics Study, Mohnish Suri, Frances Elmslie, Deciphering Developmental Disorders Study, Marleen E.H. Simon, Koen L.I. van Gassen, Delphine Tags: Report Source Type: research