OBO ID: DOID:0080462
Term Name: early infantile epileptic encephalopathy 7 Search Ontology:
Synonyms:
  • KCNQ2-related epileptic encephalopathy
  • KCNQ2-related neonatal epileptic encephalopathy
Definition: An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/15249611
References:
Ontology: Human Disease   (DOID:0080462)
OTHER early infantile epileptic encephalopathy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNQ2 Epileptic encephalopathy, early infantile, 7 613720
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None