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)

[nicolevasilevsky]

We have held 3 epilepsy workshops and reviewed the epilepsy branch. We created tickets for all of the proposed changes and are working through them. We reviewed terms that overlapped between Mondo and HPO and are making revisions accordingly. I think this ticket can be closed.