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Human Disease

developmental and epileptic encephalopathy 7

Term ID
DOID:0080462
Synonyms
  • early infantile epileptic encephalopathy 7
  • KCNQ2-related epileptic encephalopathy
  • KCNQ2-related neonatal epileptic encephalopathy
Definition
A developmental and 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 )
Relationships
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Genes Involved
Zebrafish Models