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Familial Temporal Lobe Epilepsy 1

Disease ID: disease_node_13375

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DbxrefMIM:600512, ORDO:101046
SubclassofDOID_0050736, DOID_3328
Data SourceDOID
SynonymsETL1, partial epilepsy with auditory features
Doid Labelfamilial temporal lobe epilepsy 1
Doid DescriptionA temporal lobe epilepsy characterized by autosomal domit 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_13375
Doid IdDOID_0060748
LabelFamilial Temporal Lobe Epilepsy 1