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Human Disease

developmental and epileptic encephalopathy 30

Term ID
DOID:0080465
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
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Genes Involved
Zebrafish Models