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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: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:C128189;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO
EXP
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17196942, PMID:17196942 RGD:1598976 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H susceptibility IAGP
EXP
ClinVar Annotator: match by term: Epilepsy, childhood absence 6
ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
ClinVar
CTD
OMIM
PMID:12891677, PMID:14729682, PMID:15048902, PMID:15852375, PMID:15888660, PMID:17696120, PMID:25741868, PMID:26467025, PMID:28492532, PMID:12891677 RGD:1358447 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,799...50,504,244
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,563,921...36,703,558
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 IAGP RGD PMID:11904235 RGD:728397 NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,255,553...24,362,801
Ensembl chr16:24,255,553...24,362,801
JBrowse link
G EFHC1 EF-hand domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27521439, PMID:28251550, PMID:28492532 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility IAGP
EXP
DNA:SNPs
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:18514161, PMID:19935738, PMID:20550555, PMID:24088041, PMID:25726841, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26845707, PMID:26950270, PMID:28492532, PMID:16835263 RGD:1601269 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 IAGP RGD PMID:9259378 RGD:1358334 NCBI chr21:29,536,933...29,939,996
Ensembl chr21:29,536,933...29,940,033
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr10:90,738,693...90,858,039
Ensembl chr10:90,740,823...90,858,039
JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,651,501...142,669,983
Ensembl chr 8:142,657,460...142,681,968
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:139,600,838...139,703,135
Ensembl chr 8:139,600,838...139,704,109
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NPY neuropeptide Y treatment IDA
ISO
RGD PMID:17331209, PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,323,962...163,344,832
Ensembl chr 4:163,323,962...163,344,832
JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,336,968...163,352,277
Ensembl chr 4:163,343,892...163,351,934
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868, PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset IAGP DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 8:100,916,523...100,954,068
Ensembl chr 8:100,916,523...100,953,388
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL355674.1 novel transcript IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,371,531...74,383,530
Ensembl chr 9:74,371,335...74,384,578
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:25,672,241...25,865,144
Ensembl chr15:25,677,271...25,865,184
Ensembl chr15:25,677,271...25,865,184
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279, PMID:28492532 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar PMID:2828157, PMID:11198279, PMID:11742254, PMID:12189488, PMID:18514161, PMID:19935738, PMID:20550555, PMID:23495136, PMID:23934111, PMID:24999380, PMID:25533962, PMID:25726841, PMID:25741868, PMID:26068938, PMID:26467025, PMID:26645412, PMID:26704558, PMID:26845707, PMID:26950270, PMID:26993267, PMID:27476654, PMID:27622563, PMID:28053010, PMID:28281572, PMID:28492532, PMID:28544625, PMID:28607477, PMID:29961870 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G MIR6130 microRNA 6130 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr21:23,079,284...23,079,392
Ensembl chr21:23,079,284...23,079,392
JBrowse link
G RORB RAR related orphan receptor B IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
JBrowse link
G RORB-AS1 RORB antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,473,435...74,498,553
Ensembl chr 9:74,485,551...74,499,127
JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 2
ClinVar Annotator: match by term: GABRG2-Related Disorder
ClinVar PMID:11326274, PMID:11326275, PMID:11748509, PMID:12097483, PMID:12117362, PMID:12477709, PMID:15342642, PMID:15470132, PMID:15866052, PMID:16510738, PMID:16924025, PMID:17148443, PMID:18094250, PMID:18414213, PMID:18566737, PMID:20485450, PMID:20551311, PMID:21425109, PMID:22190369, PMID:22539854, PMID:22750526, PMID:23708187, PMID:23720301, PMID:23935098, PMID:24407264, PMID:24480790, PMID:24630281, PMID:24811917, PMID:25726841, PMID:25730860, PMID:25731747, PMID:25741868, PMID:26467025, PMID:27066572, PMID:27334371, PMID:27340224, PMID:27367160, PMID:27864268, PMID:27899622, PMID:28460589, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29778030 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585, PMID:15252188, PMID:15505175, PMID:16932951, PMID:17567819, PMID:19191339, PMID:19710712, PMID:21703448, PMID:25741868 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
ClinVar
OMIM
PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:18534981, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27521439, PMID:28251550, PMID:28492532 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFHC1 EF-hand domain containing 1 susceptibility IAGP ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:17159113, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18830
    syndrome 7848
      electroclinical syndrome 458
        absence epilepsy 109
          childhood electroclinical syndrome 75
            childhood absence epilepsy 32
              Childhood Absence Epilepsy 1 7
              Childhood Absence Epilepsy 2 1
              idiopathic generalized epilepsy 13 1
              juvenile absence epilepsy + 2
Path 2
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      nervous system disease 13394
        central nervous system disease 11434
          brain disease 10614
            epilepsy 1601
              electroclinical syndrome 458
                absence epilepsy 109
                  childhood electroclinical syndrome 75
                    childhood absence epilepsy 32
                      Childhood Absence Epilepsy 1 7
                      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.