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Article

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

American journal of human genetics - 3 Aug 2017

Guella Ilaria, McKenzie Marna B, Evans Daniel M, Buerki Sarah E, Toyota Eric B, Van Allen Margot I, Suri Mohnish, Elmslie Frances, Simon Marleen E H, van Gassen Koen L I, Héron Delphine, Keren Boris, Nava Caroline, Connolly Mary B, Demos Michelle, Farrer Matthew J

Abstract excerpt

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...

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Identifiers

PMID: 28777935
DOI: 10.1016/j.ajhg.2017.07.004
PMCID: PMC5544417

Genes

YWHAG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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