OBO ID: DOID:0080420 |
Term Name: | developmental and epileptic encephalopathy 62 | Search Ontology: | |
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Synonyms: |
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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. https://www.ncbi.nlm.nih.gov/pubmed/29466837 | ||
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Ontology: | Human Disease ( DOID:0080420 ) |
OTHER developmental and epileptic encephalopathy 62 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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SCN3A | Developmental and epileptic encephalopathy 62 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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