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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: NCI:C141441
For additional species annotation, visit the Alliance of Genome Resources.


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familial temporal lobe epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,786,124...256,804,156
Ensembl chr 1:256,786,124...256,804,156
JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,881,688...256,913,617
Ensembl chr 1:256,881,771...256,914,260
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
ClinVar Annotator: match by OMIM:600512
OMIM
ClinVar
PMID:11810107, PMID:11978770, PMID:12205652, PMID:12601709, PMID:12771268, PMID:14510822, PMID:15079010, PMID:15079011, PMID:15349881, PMID:15660777, PMID:15857855, PMID:17296837, PMID:17562837, PMID:18625862, PMID:18711109, PMID:19191227, PMID:21504429, PMID:22323750, PMID:22496201, PMID:23621105, PMID:24206907, PMID:25485908, PMID:25741868, PMID:26459092, PMID:26467025, PMID:26773249, PMID:26818738, PMID:27760137, PMID:28492532, PMID:30311386 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,199,981...46,211,930
Ensembl chr20:46,199,981...46,211,930
JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,585,410...256,734,727
Ensembl chr 1:256,585,410...256,734,730
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
CTD
ClinVar
PMID:2564880, PMID:14515139, PMID:18414213, PMID:24467814, PMID:25648840, PMID:25741868, PMID:26046367, PMID:26467025, PMID:28419454, PMID:28492532, PMID:29056246, PMID:29358611, PMID:30311386, PMID:31134136 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          sleep disorder 144
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              focal epilepsy 156
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 14
                    familial temporal lobe epilepsy 1 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.