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 31 - 40 of 48 in total
HPO ID HPO Term
HP:0002133 Status epilepticus
HP:0002317 Unsteady gait
HP:0002355 Difficulty walking
HP:0002376 Developmental regression
HP:0002421 Poor head control
HP:0002509 Limb hypertonia
HP:0002521 Hypsarrhythmia
HP:0004305 Involuntary movements
HP:0004322 Short stature
HP:0007018 Attention deficit hyperactivity disorder
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