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Browse result for Early myoclonic encephalopathy
※ introduction Early myoclonic encephalopathy (EME) is a rare neonatal-onset epilepsy developmental and epileptic encephalopathy (DEE) with an onset at neonatal period or during the first 3 months of life. This syndrome is now included as part of the Early infantile developmental and epileptic encephalopathy (EIDEE) under the 2022 ILAE (International League Against Epilepsy) syndrome classification.
Reference
Wiki: Early myoclonic encephalopathy
Reference
Wiki: Early myoclonic encephalopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07008 | Q15652 | 22103 | JMJD1C | Probable JmjC domain-containing histone demethylation protein 2C | Homo sapiens |
| PTMD12967 | Q9H936 | 79751 | SLC25A22 | Mitochondrial glutamate carrier 1 symporter 1) | Homo sapiens |
| PTMD13819 | Q9NZV8 | 3751 | KCND2 | Potassium voltage-gated channel subfamily D member 2 | Homo sapiens |
