OBO ID: DOID:0080472
Term Name: developmental and epileptic encephalopathy 91 Search Ontology:
Synonyms:
  • infantile or early childhood epileptic encephalopathy 1
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/28942967
References:
Ontology: Human Disease   ( DOID:0080472 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 91 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PPP3CA Developmental and epileptic encephalopathy 91 617711
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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