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Human Disease

developmental and epileptic encephalopathy 52

Term ID
DOID:0080455
Synonyms
  • DEE52
  • early infantile epileptic encephalopathy 52
Definition
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19710327
References
Ontology
Human Disease   ( DOID:0080455 )
Relationships
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Genes Involved
Zebrafish Models