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Human Disease
developmental and epileptic encephalopathy 78
- Term ID
- DOID:0112214
- Synonyms
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- DEE78
- early infantile epileptic encephalopathy 78
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (2)
- References
- Ontology
- Human Disease ( DOID:0112214 )
- is a type of
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