Term Name: developmental and epileptic encephalopathy 113
Synonyms:
Definition: A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21.
Ontology: Human Disease [DOID:0051085]   ( DOID:0051085 )

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