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developmental and epileptic encephalopathy 57
Summary
- Synonym
-
- DEE57
- early infantile epileptic encephalopathy 57
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080284
- Mondo Disease Ontology
- OMIM
