Disease vs Phenotype terms revision: "seizure"

[sabrinatoro]

from Mondo Medical Expert Meeting (230223):

We need to

• [ ] make a list of "seizure" terms
• [ ] review whether these terms are disease or phenotype

@sabrinatoro and @pnrobinson will work on preparing a list of terms for seizure/epilepsy, and will ask experts (Ingo) to review these. (note that Ingo is/was the chair of the Clingen working group, so it would ensure that this will be in line with what the Clingen working group decided)

[pnrobinson]

I would specifically suggest that we implement the classification described in this article: ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions and then reach out to our experts for confirmation. @sabrinatoro @ahamosh -- we could consider planning to meet for an hour to do this and create the terms in Protege. If so, I would be happy to write suggested definitions in a spreadsheet to streamline the work.

[nicolevasilevsky]

@pnrobinson it would be great if you could work on this with @sabrinatoro. There is a call scheduled next Thursday, I won't be able to attend, unfortunately, as I will be traveling.

I did work with Ingo years ago to update the representation of epilepsy in Mondo according to the ILAE classification but it was probably ~4 years ago and I'm sure things have changed/been updated.

Thank you!

[nicolevasilevsky]

I am working on reviewing the classifications according to the ILAE classification, my spreadsheet is here - work in progress

[nicolevasilevsky]

Revisit:

We should investigate if we should merge MONDO:0100208 'self-limited familial neonatal-infantile epilepsy'with MONDO:0015642 'benign partial infantile seizures' - according to ILAE, "Familial (and non-familial) infantile epilepsy, formerly called benign familial (and non-familial) infantile seizures, is a syndrome characterized by the onset of seizures in the infantile period."

[nicolevasilevsky]

to do:

• [ ] add links to the ILAE pages as SeeAlso annotations

(discussed with @sabrinatoro on curation hackathon call 2024-04-09)