OBO ID: DOID:0080438
Term Name: early infantile epileptic encephalopathy 5 Search Ontology:
Synonyms:
Definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457
References:
Ontology: Human Disease   (DOID:0080438)
OTHER early infantile epileptic encephalopathy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPTAN1 Epileptic encephalopathy, early infantile, 5 613477
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None