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
Disease Ontology
DOID:0050709
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
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
6334 SCN8A sodium voltage-gated channel alpha subunit 8
6812 STXBP1 syntaxin binding protein 1
170302 ARX aristaless related homeobox
Displaying all 4 entries
Gene ID Gene Symbol Description Source
14681 Gnao1 guanine nucleotide binding protein, alpha O
20273 Scn8a sodium channel, voltage-gated, type VIII, alpha
20910 Stxbp1 syntaxin binding protein 1
67834 Idh3a isocitrate dehydrogenase 3 (NAD+) alpha
Displaying all 4 entries
Gene ID Gene Symbol Description Source
25721 Got2 glutamic-oxaloacetic transaminase 2
29710 Scn8a sodium voltage-gated channel alpha subunit 8
94173 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
114096 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic
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: December 9, 2024