OBO ID: DOID:0080420
Term Name: developmental and epileptic encephalopathy 62 Search Ontology:
Synonyms:
  • DEE62
  • early infantile epileptic encephalopathy 62
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/29466837
References:
Ontology: Human Disease   ( DOID:0080420 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 62 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN3A Developmental and epileptic encephalopathy 62
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.