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
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 95 in total
HPO ID HPO Term
HP:0002300 Mutism
HP:0002353 EEG abnormality
HP:0002360 Sleep abnormality
HP:0002371 Loss of speech
HP:0002376 Developmental regression
HP:0002505 Loss of ambulation
HP:0002540 Inability to walk
HP:0002650 Scoliosis
HP:0002793 Abnormal pattern of respiration
HP:0002808 Kyphosis
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

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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