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 31 - 40 of 55 in total
HPO ID HPO Term
HP:0002069 Bilateral tonic-clonic seizure
HP:0002079 Hypoplasia of the corpus callosum
HP:0002121 Generalized non-motor (absence) seizure
HP:0002131 Episodic ataxia
HP:0002353 EEG abnormality
HP:0002360 Sleep abnormality
HP:0002373 Febrile seizure (within the age range of 3 months to 6 years)
HP:0002421 Poor head control
HP:0002506 Diffuse cerebral atrophy
HP:0005280 Depressed nasal bridge
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