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Metadata
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

MIM:613721

Synonyms

DEE11 [EXACT]

early infantile epileptic encephalopathy 11 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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