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Human Disease
developmental and epileptic encephalopathy 103
- Term ID
- DOID:0070389
- Synonyms
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- DEE103
- early infantile epileptic encephalopathy 103
- Definition
- A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/35314505/
- References
- Ontology
- Human Disease ( DOID:0070389 )
- is a type of
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