early myoclonic encephalopathy

Summary
Synonym
  • Epileptic seizures - myoclonic
  • Epileptic seizures, myoclonic
  • Myoclonic seizure
  • Myoclonic seizure disorder
  • myoclonia epileptica
  • myoclonic epilepsy
Super Class
neonatal period electroclinical syndrome
External Links
Disease Ontology
DOID:308
MeSH
UMLS
Related Genes
Displaying entries 11 - 20 of 52 in total
Gene ID Gene Symbol Description Source
2731 GLDC glycine decarboxylase
3074 HEXB hexosaminidase subunit beta
3155 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
3631 INPP4A inositol polyphosphate-4-phosphatase type I A
4668 NAGA alpha-N-acetylgalactosaminidase
4758 NEU1 neuraminidase 1
5211 PFKL phosphofructokinase, liver type
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5538 PPT1 palmitoyl-protein thioesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024