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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:epilepsy with generalized tonic-clonic seizures
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Accession:DOID:7725 term browser browse the term
Definition:A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)
Synonyms:exact_synonym: Cryptogenic Tonic Clonic Epilepsy;   Cryptogenic Tonic-Clonic Epilepsies;   Epilepsy, Tonic-Clonic;   Epileptic seizures, tonic-clonic;   Familial Tonic Clonic Epilepsy;   Familial Tonic-Clonic Epilepsies;   Grand Mal Convulsion;   Grand Mal Convulsions;   Grand Mal Epilepsy;   Grand Mal Seizure Disorder;   Major Epilepsies;   Major Epilepsy;   Major Motor Seizure Disorder;   Symptomatic Tonic Clonic Epilepsy;   Symptomatic Tonic-Clonic Epilepsies;   Tonic Clonic Convulsion;   Tonic Clonic Convulsion Disorder;   Tonic Clonic Convulsion Syndrome;   Tonic Clonic Convulsions;   Tonic Clonic Seizure Disorder;   Tonic Clonic Seizure Syndrome;   Tonic-Clonic Convulsion Disorders;   Tonic-Clonic Convulsion Syndromes;   Tonic-Clonic Epilepsies;   Tonic-Clonic Seizure Disorders;   Tonic-Clonic Seizure Syndromes
 primary_id: MESH:D004830;   RDO:0005511
 xref: NCI:C3022
For additional species annotation, visit the Alliance of Genome Resources.



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epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413
JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      electroclinical syndrome 706
        absence epilepsy 109
          adolescence-adult electroclinical syndrome 37
            epilepsy with generalized tonic-clonic seizures 19
              Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            epilepsy 2176
              electroclinical syndrome 706
                absence epilepsy 109
                  adolescence-adult electroclinical syndrome 37
                    epilepsy with generalized tonic-clonic seizures 19
                      Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures 0
paths to the root