developmental and epileptic encephalopathy 1

Summary
Synonym
  • DEE1
  • X-linked infantile spasm syndrome 1
  • early infantile epileptic encephalopathy 1
Definition
A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
Super Class
X-linked recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080468
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9254 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2
23236 PLCB1 phospholipase C beta 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
The Human Phenotype Ontology
Displaying entries 41 - 50 of 55 in total
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 5 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

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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