OBO ID: DOID:0080460
Term Name: developmental and epileptic encephalopathy 34 Search Ontology:
Synonyms:
  • DEE34
  • early infantile epileptic encephalopathy 34
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769
References:
Ontology: Human Disease   (DOID:0080460)
OTHER developmental and epileptic encephalopathy 34 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC12A5 Developmental and epileptic encephalopathy 34 616645
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None