Term Name: developmental and epileptic encephalopathy 7
Synonyms: early infantile epileptic encephalopathy 7, KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
Ontology: Human Disease [DOID:0080462]   ( DOID:0080462 )

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