developmental and epileptic encephalopathy 79

Summary
Synonym
  • DEE79
  • early infantile epileptic encephalopathy 79
Definition
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0112215
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2558 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5
Displaying 1 entry
Gene ID Gene Symbol Description Source
110886 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
29707 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
39984 Grd Glycine receptor
The Human Phenotype Ontology
Displaying entries 11 - 20 of 48 in total
HPO ID HPO Term
HP:0000494 Downslanted palpebral fissures
HP:0001249 Intellectual disability
HP:0000508 Ptosis
HP:0000668 Hypodontia
HP:0001298 Encephalopathy
HP:0002063 Rigidity
HP:0001265 Hyporeflexia
HP:0002376 Developmental regression
HP:0001508 Failure to thrive
HP:0001257 Spasticity
Displaying all 5 entries
Gene ID Gene Symbol Description
1759 DNM1 dynamin 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
8867 SYNJ1 synaptojanin 1

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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: December 9, 2024