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[Merge] MONDO:0016022 'early myoclonic encephalopathy' #8557
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Note - do not add to list until we've discussed this at the epilepsy workshop on Jan 17, 2025 |
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. |
Additional tasks:
(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) |
Done on PR: #8659 |
…lopathy - update comment - add GitHub link address #8557
* add new term myoclonic epilepsy -reclassify terms - exclude superclasses address #8557 close #8602 * revise subclasses * add equiv axiom * remove excluded subclassOf the parent is still asserted (it must have accidentally not been deleted) * reclassify 'MERRF syndrome' as a child of progressive myoclonus epilepsy * fix qc * revise syn scope
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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