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New publication Genes & inheritance 1 supporting source confidence 97% novelty 75%

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.

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How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:388. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes peer_reviewed · published 2024-01-01 · live page
Potential novel associations were found in two gene sets: the NSL complex (with protein-truncating URVs in KANSL1 [MIM: 612452], KANSL2 [MIM: 615488], and PHF20 [MIM: 610335]) and the phosphodiesterase (PDE) gene family (with damaging missense URVs in PDE2A [MIM: 602658] and PDE10A [MIM: 610652]), associated with DEEs and NAFE, respectively.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00