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ONTOLOGY REPORT - ANNOTATIONS


Term:childhood absence epilepsy
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Accession:DOID:1825 term browser browse the term
Definition:A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Synonyms:exact_synonym: Akinetic Petit Mal;   Atonic Absence Seizure;   ECA5;   ECA6;   Epilepsy Juvenile Absence;   Epilepsy, Absence, Atypical;   Juvenile Absence Epilepsies;   Minor Epilepsies;   Minor Epilepsy;   Petit Mal Convulsion;   Petit Mal Epilepsies;   Petit Mal Epilepsy;   Pykno Epilepsy;   Pykno-Epilepsies;   atonic absence seizures;   childhood absence epilepsies;   petit mal seizure;   pyknolepsies;   pyknolepsy
 narrow_synonym: EIG6;   EPILEPSY, CHILDHOOD ABSENCE 6
 related_synonym: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5;   EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6;   EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6;   Epilepsy, Childhood Absence, Susceptibility To, 4
 primary_id: MESH:D004832
 alt_id: MESH:C567002;   OMIM:611942;   OMIM:612269;   RDO:0000633;   RDO:0015192
 xref: NCI:C3023
For additional species annotation, visit the Alliance of Genome Resources.


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childhood absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1598976
RGD:11554173
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:1358447
RGD:11554173
RGD:7240710
RGD:8554872
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:11554173
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 7 119,228,112 119,353,332 RGD:13524553
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 1 192,613,766 192,708,371 RGD:728397
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:8554872
RGD:11554173
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
G Gabra6 gamma-aminobutyric acid type A receptor alpha 6 subunit JBrowse link 10 27,847,447 27,862,896 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:1601269
RGD:7240710
RGD:8554872
RGD:11554173
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:1358631
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484590
G Grik1 glutamate ionotropic receptor kainate type subunit 1 JBrowse link 11 27,811,954 28,213,940 RGD:1358334
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:9686420
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:6480686
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:11554173
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:1302591
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547934
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:10448963
RGD:10448964
G Npy1r neuropeptide Y receptor Y1 JBrowse link 16 24,779,480 24,789,131 RGD:10448963
G Npy2r neuropeptide Y receptor Y2 JBrowse link 2 181,528,949 181,538,145 RGD:10448963
G Npy5r neuropeptide Y receptor Y5 JBrowse link 16 24,796,685 24,805,730 RGD:10448963
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11058811
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta JBrowse link 7 75,573,553 75,598,295 RGD:9587483
Childhood Absence Epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Rorb RAR-related orphan receptor B JBrowse link 1 234,252,757 234,442,597 RGD:8554872
Childhood Absence Epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
idiopathic generalized epilepsy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:7240710
juvenile absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:8554872
juvenile absence epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        absence epilepsy 98
          childhood electroclinical syndrome 73
            childhood absence epilepsy 35
              Childhood Absence Epilepsy 1 2
              Childhood Absence Epilepsy 2 1
              idiopathic generalized epilepsy 13 1
              juvenile absence epilepsy + 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            epilepsy 1078
              electroclinical syndrome 332
                absence epilepsy 98
                  childhood electroclinical syndrome 73
                    childhood absence epilepsy 35
                      Childhood Absence Epilepsy 1 2
                      Childhood Absence Epilepsy 2 1
                      idiopathic generalized epilepsy 13 1
                      juvenile absence epilepsy + 1
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.