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General Information
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| Term |
developmental and epileptic encephalopathy 62 |
ID (Ontology) |
DOID:0080420 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. |
| Also Known As |
"DEE62" ; "early infantile epileptic encephalopathy 62" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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developmental and epileptic encephalopathy 62 | 1 | for disease ribbon | developmental and epileptic encephalopathy 62 | 1 | model of | developmental and epileptic encephalopathy 62 | 1 |
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Relationships