17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…

A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”

More something new reported

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:c5ab96. 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)

Duplications of 17q12 can cause familial fever-related epilepsy syndromes. peer_reviewed · published 2013-10-15 · live page
This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Duplications of 17q12 can cause familial fever-related epilepsy syndromes. pubmed 2013-10-15 yesterday 1.00