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Metadata
ID DOID:0051085
PURL http://purl.obolibrary.org/obo/DOID_0051085 Copy
Name developmental and epileptic encephalopathy 113
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.
https://pubmed.ncbi.nlm.nih.gov/37985816/
Xrefs

MIM:620772

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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