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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07008Q1565222103
JMJD1C
Probable JmjC domain-containing histone demethylation protein 2C
Homo sapiens
PTMD12967Q9H93679751
SLC25A22
Mitochondrial glutamate carrier 1 symporter 1)
Homo sapiens
PTMD13819Q9NZV83751
KCND2
Potassium voltage-gated channel subfamily D member 2
Homo sapiens