Term Name: developmental and epileptic encephalopathy 13
Synonyms: DEE13, early infantile epileptic encephalopathy 13
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.
Ontology: Human Disease [DOID:0080445]   ( DOID:0080445 )

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