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Human Disease
developmental and epileptic encephalopathy 121
- Term ID
- DOID:0051090
- Synonyms
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- Definition
- A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. https://pubmed.ncbi.nlm.nih.gov/40455867/
- References
- Ontology
- Human Disease ( DOID:0051090 )
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Zebrafish Models