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Human Disease

developmental and epileptic encephalopathy 93

Term ID
DOID:0112275
Synonyms
  • DEE93
  • IECEE3
  • infantile or early childhood epileptic encephalopathy 3
Definition
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. https://pubmed.ncbi.nlm.nih.gov/29668857/
References
Ontology
Human Disease   ( DOID:0112275 )
Relationships
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Genes Involved
Zebrafish Models