Metadata | |
---|---|
ID | DOID:0080440 |
Name | developmental and epileptic encephalopathy 3 |
Definition | A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15592994 |
Xrefs | |
Synonyms |
early infantile epileptic encephalopathy 3 [EXACT] |
Parent Relationships |