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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;   Epilepsy, Absence, Atypical;   Minor Epilepsy;   Petit Mal Convulsion;   atonic absence seizures;   childhood absence epilepsies;   minor epilepsies;   petit mal epilepsies;   petit mal epilepsy;   petit mal seizure;   pykno epilepsy;   pykno-epilepsies;   pyknolepsies;   pyknolepsy
 narrow_synonym: ECA6;   EIG6;   childhood absence epilepsy 6
 broad_synonym: CACNA1H-RELATED DISORDER
 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
 xref: NCI:C3023;   OMIM:PS600131
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 2 65,491,784 65,871,068 RGD:9068941
G CACNA1H calcium voltage-gated channel subunit alpha1 H JBrowse link 3 40,637,420 40,694,616 RGD:7240710
RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 13 32,845,110 32,988,851 RGD:9068941
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 5 11,067,016 11,185,480 RGD:9068941
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 3 21,855,847 21,961,191 RGD:9068941
G EFHC1 EF-hand domain containing 1 JBrowse link 7 46,244,915 46,320,261 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 JBrowse link 16 61,656,583 61,723,428 RGD:9068941
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 JBrowse link 16 61,855,698 61,872,503 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 JBrowse link 1 140,566,443 140,906,516 RGD:7240710
RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 JBrowse link 16 61,441,622 61,543,375 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 14 87,968,850 88,005,375 RGD:9068941
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 JBrowse link 13 192,877,707 193,296,954 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 16 29,439,294 29,808,855 RGD:9068941
G HTR7 5-hydroxytryptamine receptor 7 JBrowse link 14 102,443,312 102,548,894 RGD:9068941
G JRK Jrk helix-turn-helix protein JBrowse link 4 1,476,298 1,493,597 RGD:9068941
G KCNK9 potassium two pore domain channel subfamily K member 9 JBrowse link 4 3,562,086 3,643,248 RGD:9068941
G LGI4 leucine rich repeat LGI family member 4 JBrowse link 6 44,655,621 44,663,874 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G NPY neuropeptide Y JBrowse link 18 47,985,796 47,993,726 RGD:9068941
G NPY1R neuropeptide Y receptor Y1 JBrowse link 8 52,152,649 52,163,080 RGD:9068941
G NPY2R neuropeptide Y receptor Y2 JBrowse link 8 74,039,959 74,048,398 RGD:9068941
G NPY5R neuropeptide Y receptor Y5 JBrowse link 8 52,173,906 52,183,336 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 6 44,597,461 44,607,488 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta JBrowse link 4 35,975,513 36,009,909 RGD:9068941
Childhood Absence Epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP10A ATPase phospholipid transporting 10A (putative) JBrowse link 1 141,493,551 141,667,346 RGD:9068941
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 JBrowse link 1 140,486,107 140,568,204 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 JBrowse link 1 140,566,443 140,906,516 RGD:9068941
G RORB RAR related orphan receptor B JBrowse link 1 227,573,972 227,776,806 RGD:9068941
Childhood Absence Epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 JBrowse link 16 61,441,622 61,543,375 RGD:9068941
idiopathic generalized epilepsy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN2 chloride voltage-gated channel 2 JBrowse link 13 122,234,731 122,249,889 RGD:7240710
RGD:9068941
idiopathic generalized epilepsy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 JBrowse link 16 61,656,583 61,723,428 RGD:7240710
RGD:9068941
juvenile absence epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFHC1 EF-hand domain containing 1 JBrowse link 7 46,244,915 46,320,261 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    syndrome 5521
      electroclinical syndrome 369
        absence epilepsy 95
          childhood electroclinical syndrome 66
            childhood absence epilepsy 29
              Childhood Absence Epilepsy 1 4
              Childhood Absence Epilepsy 2 1
              idiopathic generalized epilepsy 13 1
              juvenile absence epilepsy + 2
Path 2
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12087
      nervous system disease 9811
        central nervous system disease 8231
          brain disease 7565
            epilepsy 1292
              electroclinical syndrome 369
                absence epilepsy 95
                  childhood electroclinical syndrome 66
                    childhood absence epilepsy 29
                      Childhood Absence Epilepsy 1 4
                      Childhood Absence Epilepsy 2 1
                      idiopathic generalized epilepsy 13 1
                      juvenile absence epilepsy + 2
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.