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familial temporal lobe epilepsy 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.
Uniprot Description A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.
Disease Ontology Description A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
Mondo Term and Equivalent IDs
MONDO:0014639:  familial temporal lobe epilepsy 7
UMLS:C4225327: