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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 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        Neurologic Manifestations 3592
          sleep disorder 127
            familial temporal lobe epilepsy 1 3
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            epilepsy 1080
              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.