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General Information
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| Term |
developmental and epileptic encephalopathy 12 |
ID (Ontology) |
DOID:0080459 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. |
| Also Known As |
"DEE12" ; "early infantile epileptic encephalopathy 12" |
| 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 12 | 1 | for disease ribbon | developmental and epileptic encephalopathy 12 | 1 | model of | developmental and epileptic encephalopathy 12 | 1 |
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Relationships