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Metadata
ID DOID:0070783
PURL http://purl.obolibrary.org/obo/DOID_0070783 Copy
Name idiopathic generalized epilepsy 20
Definition A generalized epilepsy characterized by partial epilepsy, with onset usually early in the first decade of life, that evolves to include complex partial seizures and secondary generalized tonic-clonic seizures associated with focal, and sometimes diffuse, EEG abnormalities that has_material_basis_in compound heterozygous mutation in the ZFHX3 gene on chromosome 16q22.
https://pubmed.ncbi.nlm.nih.gov/38508705/
Xrefs

MIM:621500

SKOS

exactMatch MIM:621500

Subsets

DO_rare_slim

Parent Relationships

is_a generalized epilepsy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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