Article

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

2021-04-19

Abstract excerpt

<h4>Background</h4> Burden analysis in epilepsy has shown an excess of deleterious ultra-rare variants (URVs) in few gene-sets, such as known epilepsy genes, constrained genes, ion channel or GABA A receptor genes. We set out to investigate the burden of URVs in a comprehensive range of gene-sets presumed to be implicated in epileptogenesis. <h4>Methods</h4> We investigated several constraint and conservation-...

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Literature Corpus work: 971956e4-2d0b-5b62-893d-840a12960daa
DOI: 10.1101/2021.04.18.440264

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