Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

New terms: children of variable age epilepsy syndrome #8455

Open
9 tasks done
nicolevasilevsky opened this issue Nov 27, 2024 · 4 comments · Fixed by #8555 · May be fixed by #8748
Open
9 tasks done

New terms: children of variable age epilepsy syndrome #8455

nicolevasilevsky opened this issue Nov 27, 2024 · 4 comments · Fixed by #8555 · May be fixed by #8748

Comments

@nicolevasilevsky
Copy link
Member

nicolevasilevsky commented Nov 27, 2024

See slide 98 from epilepsy workshop

image

Action items

  • ‘variable age onset epilepsy’ should be reclassified under ‘epilepsy syndrome’
  • Rename to ‘variable age onset epilepsy syndrome’
  • add new terms:
    • variable-age onset idiopathic generalized epilepsy syndrome
    • variable-age onset focal epilepsy syndrome
    • familial mesial temporal lobe epilepsy
    • variable-age onset combined generalized and focal epilepsy syndromes
    • variable age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
    • epilepsy with auditory features | def: Epilepsy with auditory features (EAF) is a focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance.

ROBOT template here

@Daniel-Olson
Copy link
Collaborator

@kanems
Copy link
Collaborator

kanems commented Feb 19, 2025

Question about "familial mesial temporal lobe epilepsy" MONDO:0800493

OMIM 611630 uses this same string as an alternate name for "EPILEPSY, FAMILIAL TEMPORAL LOBE, 3" (MONDO:0012705, familial temporal lobe epilepsy 3) and variations of the name "familial mesial temporal lobe epilepsy" are included as broad/related synonyms on this Mondo term.
Are these actually unique disorders or the same thing? Or, is there a way to rationally relate them in the Mondo hierarchy if they are distinct clinical entities?

@kanems kanems reopened this Feb 19, 2025
@nicolevasilevsky
Copy link
Member Author

Thanks @kanems - I will look into this.

@nicolevasilevsky
Copy link
Member Author

This was a good catch, @kanems. I think that 'familial temporal lobe epilepsy 3' should be a subclass of 'familial mesial temporal lobe epilepsy'. According to ILAE, there can be more complex genetic forms too: "Complex/polygenic inheritance, with rare families reported with Mendelian inheritance, which may be recessive or dominant"

I think we should keep this new class and add the OMIM class as a child.

Thanks for reporting this.

nicolevasilevsky added a commit that referenced this issue Feb 19, 2025
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment