17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic learning, speech and behaviour 1 supporting source confidence 97% novelty 60%

This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy ca

A source reports “90%” in the context of neurodevelopment: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980 GGE, and 8,425 NAFE) and 29,804 controls.”

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How this was derived

Numbers are quoted verbatim from the source; check the source before quoting onward.

Generated 2026-11-13, last changed yesterday. Dedup key freq:90%. 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
This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980 GGE, and 8,425 NAFE) and 29,804 controls.

Supporting documents (1)

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