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Autosomal dominant epilepsy with auditory features

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
Disease Ontology Description A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0010898:  Autosomal dominant epilepsy with auditory features
GARD:0002257: 
MESH:C537297: 
Orphanet:101046: 
UMLS:C1838062: