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Human Disease
developmental and epileptic encephalopathy 7
- Term ID
- DOID:0080462
- Synonyms
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- 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
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- MIM:613720
- ORDO:439218
- Ontology
- Human Disease ( DOID:0080462 )
- is a type of
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Genes Involved
Zebrafish Models