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developmental and epileptic encephalopathy 2

Summary

Synonym

DEE2
EIEE2
X-linked infantile spasm syndrome 2
early infantile epileptic encephalopathy 2

Definition

A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.

Super Class

X-linked dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology

DOID:0080467

Mondo Disease Ontology

MONDO:0010396

OMIM

300672

MGI genotype (from TogoID)

Related Genes

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
501	ALDH7A1	aldehyde dehydrogenase 7 family member A1	DisGeNET
1557	CYP2C19	cytochrome P450 family 2 subfamily C member 19	DisGeNET
2597	GAPDH	glyceraldehyde-3-phosphate dehydrogenase	DisGeNET

Related Glycoprotein

Displaying **all 2** entries
UniProt ID	Protein Name	Source
P04406	Glyceraldehyde-3-phosphate dehydrogenase	DisGeNET
P49419	Alpha-aminoadipic semialdehyde dehydrogenase	DisGeNET

The Human Phenotype Ontology

Displaying entries **81 - 90** of 95 in total

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HPO ID	HPO Term
HP:0007204	Diffuse white matter abnormalities
HP:0007359	Focal-onset seizure
HP:0008947	Infantile muscular hypotonia
HP:0009381	Short finger
HP:0010174	Broad phalanx of the toes
HP:0010818	Generalized tonic seizure
HP:0010819	Atonic seizure
HP:0010850	EEG with spike-wave complexes
HP:0010851	EEG with burst suppression
HP:0011169	Generalized clonic seizure

Displaying **all 6** entries
Gene ID	Gene Symbol	Description
51227	PIGP	phosphatidylinositol glycan anchor biosynthesis class P
9091	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q
23236	PLCB1	phospholipase C beta 1
5277	PIGA	phosphatidylinositol glycan anchor biosynthesis class A
6487	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3
22854	NTNG1	netrin G1