GlyCosmos Portal

early infantile epileptic encephalopathy

Synonym

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

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Gene ID	Gene Symbol	Description	Source
51227	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	DisGeNET

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
854303	IDH2	isocitrate dehydrogenase (NAD(+)) IDH2	Alliance of Genome Resources
855691	IDH1	isocitrate dehydrogenase (NAD(+)) IDH1	Alliance of Genome Resources

Related Glycoprotein

Displaying entries **1 - 10** of 12 in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O43426	Synaptojanin-1	DisGeNET
P04406	Glyceraldehyde-3-phosphate dehydrogenase	DisGeNET
P37287	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	DisGeNET
P49419	Alpha-aminoadipic semialdehyde dehydrogenase	DisGeNET
P51654	Glypican-3	DisGeNET
P52789	Hexokinase-2	DisGeNET
P54646	5'-AMP-activated protein kinase catalytic subunit alpha-2	DisGeNET