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[Revise subclass] MONDO:0016022 'early myoclonic encephalopathy' #8557

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nicolevasilevsky opened this issue Jan 10, 2025 · 1 comment
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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

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