Metadata | |
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ID | DOID:0080421 |
Name | developmental and epileptic encephalopathy 11 |
Definition | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/19786696 |
Xrefs | |
Synonyms |
DEE11 [EXACT] early infantile epileptic encephalopathy 11 [EXACT] |
Parent Relationships |