Search Ontology:
Human Disease

developmental and epileptic encephalopathy 103

Term ID
DOID:0070389
Synonyms
  • DEE103
  • early infantile epileptic encephalopathy 103
Definition
A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/35314505/
References
Ontology
Human Disease   ( DOID:0070389 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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