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 1 - 10 of 21 in total
Gene ID Gene Symbol Description Source
275 AMT aminomethyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2719 GPC3 glypican 3
3099 HK2 hexokinase 2
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
3421 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
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