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[Merge] MONDO:0016022 'early myoclonic encephalopathy' #8557

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nicolevasilevsky opened this issue Jan 10, 2025 · 4 comments
Open

[Merge] MONDO:0016022 'early myoclonic encephalopathy' #8557

nicolevasilevsky opened this issue Jan 10, 2025 · 4 comments
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epilepsy merge on list Added to the obosletion or merge candidate list.

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@nicolevasilevsky
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nicolevasilevsky commented Jan 10, 2025

Merge Mondo term (ID and Label)
MONDO:0016022 'early myoclonic encephalopathy'

Into:
MONDO:0800491 'early-infantile DEE'.

Suggested revision and reasons
According to ILAE:
"Early-infantile developmental and epileptic encephalopathy syndrome (EIDEE) is characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. This syndrome encompasses the previous syndromes of Ohtahara syndrome and early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early."

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Note - do not add to list until we've discussed this at the epilepsy workshop on Jan 17, 2025

@nicolevasilevsky nicolevasilevsky changed the title [Revise subclass] MONDO:0016022 'early myoclonic encephalopathy' [Merge] MONDO:0016022 'early myoclonic encephalopathy' Jan 15, 2025
@nicolevasilevsky nicolevasilevsky added the on list Added to the obosletion or merge candidate list. label Jan 20, 2025
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We discussed this at the workshop and it was suggested that I follow up with Elaine Wirrell, I emailed her on 2025-02-05.

If we don't hear back, I think it's okay to proceed with this as proposed based on ILAE.

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Additional tasks:

  • exclude superclass (MONDO:0016022 'early myoclonic encephalopathy') from 'familial infantile myoclonic epilepsy' and 'myoclonic epilepsy, Hartung type'

(if I hear back from Eileen, ask her if these should be children of 'early infantile DEE' but based on OMIM descriptions, they do not seem like DEEs)

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nicolevasilevsky commented Feb 8, 2025

Done on PR: #8659

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Labels
epilepsy merge on list Added to the obosletion or merge candidate list.
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