OBO ID: DOID:0112207
Term Name: developmental and epileptic encephalopathy 71 Search Ontology:
Synonyms:
  • DEE71
  • early infantile epileptic encephalopathy 71
  • glutaminase deficiency with neonatal epileptic encephalopathy
Definition: A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/30575854/
References:
Ontology: Human Disease   (DOID:0112207)
OTHER developmental and epileptic encephalopathy 71 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLS Developmental and epileptic encephalopathy 71 618328
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None