developmental and epileptic encephalopathy 98

Summary
Synonym
  • DEE98
  • early infantile epileptic encephalopathy 98
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0070384
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
477 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
98660 Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
Displaying 1 entry
Gene ID Gene Symbol Description Source
24212 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2
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 4 entries
Gene ID Gene Symbol Description
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: August 19, 2024