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MIRAGE
developmental and epileptic encephalopathy 45

Summary
Synonym
  • DEE45
  • early infantile epileptic encephalopathy 45
Definition
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080428
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2560 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14400 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25450 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1
Displaying 1 entry
Gene ID Gene Symbol Description Source
32554 Lcch3 Ligand-gated chloride channel homolog 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
176691 gab-1 Gamma-aminobutyric acid receptor subunit beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 48 in total
HPO ID HPO Term
HP:0000252 Microcephaly
HP:0000348 High forehead
HP:0000494 Downslanted palpebral fissures
HP:0000504 Abnormality of vision
HP:0000508 Ptosis
HP:0000546 Retinal degeneration
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000668 Hypodontia
HP:0000708 Atypical behavior
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: February 17, 2025