Term Name: developmental and epileptic encephalopathy 11
Synonyms: DEE11, early infantile 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.
Ontology: Human Disease [DOID:0080421]   ( DOID:0080421 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy