OBO ID: DOID:0080454
Term Name: developmental and epileptic encephalopathy 42 Search Ontology:
Synonyms:
  • DEE42
  • early infantile epileptic encephalopathy 42
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654
References:
Ontology: Human Disease   ( DOID:0080454 )
OTHER developmental and epileptic encephalopathy 42 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1A Developmental and epileptic encephalopathy 42 617106
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None