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ONTOLOGY REPORT - ANNOTATIONS


Term:familial temporal lobe epilepsy 1
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Accession:DOID:0060748 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ADLTE;   ADPEAF;   Autosomal Dominant Lateral Temporal Lobe Epilepsy;   Autosomal dominant partial epilepsy with auditory features;   ETL1;   partial epilepsy with auditory features
 primary_id: MESH:C537297
 alt_id: OMIM:600512;   RDO:0003114;   RDO:0008760
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familial temporal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi1 leucine-rich, glioma inactivated 1 JBrowse link 1 256,955,944 256,996,835 RGD:7240710
RGD:8554872
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 JBrowse link 20 46,199,981 46,211,930 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        Neurologic Manifestations 3573
          sleep disorder 127
            familial temporal lobe epilepsy 1 3
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            epilepsy 1077
              focal epilepsy 128
                temporal lobe epilepsy 78
                  Familial Temporal Epilepsy 6
                    familial temporal lobe epilepsy 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.