OBO ID: DOID:0080465
Term Name: developmental and epileptic encephalopathy 30 Search Ontology:
Synonyms:
  • DEE30
  • early infantile epileptic encephalopathy 30
Definition: A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/25839329
References:
Ontology: Human Disease   ( DOID:0080465 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SIK1 Developmental and epileptic encephalopathy 30 616341
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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