early infantile epileptic encephalopathy

Summary
Synonym
  • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Definition
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Super Class
neonatal period electroclinical syndrome
External Links
Disease Ontology
DOID:0050709
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 21 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
8867 SYNJ1 synaptojanin 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
23236 PLCB1 phospholipase C beta 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
854303 IDH2 isocitrate dehydrogenase (NAD(+)) IDH2
855691 IDH1 isocitrate dehydrogenase (NAD(+)) IDH1

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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