familial temporal lobe epilepsy 1

Summary

DOID:0060748 - familial temporal lobe epilepsy 1

Disease Ontology Definition: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.

Synonyms: ETL1, partial epilepsy with auditory features

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lgi1, depdc5, reln

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010898 - autosomal dominant epilepsy with auditory features

MONDO:0010898 - autosomal dominant epilepsy with auditory features

MIM:

MIM:600512 - EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

MIM:600512 - EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), temporal lobe epilepsy (is_a)