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
Accession: DOID:1825
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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Cacna1a
calcium voltage-gated channel subunit alpha1 A
IAGP ISO
DNA:mutation:cds:752T>A (p.M251K)(rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:17196942 , PMID:17196942
RGD:1598976
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Cacna1agry
calcium voltage-gated channel subunit alpha1 A; groggy mutant
IAGP
RGD
PMID:17196942
RGD:1598976
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: Epilepsy, childhood absence 6 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532 , PMID:12891677
RGD:1358447
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
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Cacng2
calcium voltage-gated channel auxiliary subunit gamma 2
IEP
mRNA,protein:increased expression:somatosensory cortex, primary motor cortex
RGD
PMID:18556211
RGD:13524553
NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
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Cacng3
calcium voltage-gated channel auxiliary subunit gamma 3
ISO
RGD
PMID:11904235
RGD:728397
NCBI chr 1:192,613,766...192,708,371
Ensembl chr 1:192,613,372...192,709,078
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Efhc1
EF-hand domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
ClinVar
PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Gabra6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:28492532
NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
susceptibility
ISO
DNA:SNPs ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612269
OMIM ClinVar 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 chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
DNA:snp:intron:IVS6+2T>G (human)
RGD
PMID:12117362
RGD:1358631
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Glud1
glutamate dehydrogenase 1
IEP
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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Grik1
glutamate ionotropic receptor kainate type subunit 1
ISO
RGD
PMID:9259378
RGD:1358334
NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
RGD
PMID:15182313
RGD:9686420
NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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Htr7
5-hydroxytryptamine receptor 7
IMP
RGD
PMID:15050708
RGD:6480686
NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
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Jrk
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
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Kcnk9
potassium two pore domain channel subfamily K member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15781965
NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
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Lgi4
leucine-rich repeat LGI family, member 4
ISO
DNA:point mutation: :c.1914G>A (human)
RGD
PMID:14505228
RGD:1302591
NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:20303372
RGD:8547934
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Npy
neuropeptide Y
treatment
ISO IDA
RGD
PMID:17331209 , PMID:24039965
RGD:10448963 , RGD:10448964
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 Ensembl chr 4:79,557,854...79,565,097
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Npy1r
neuropeptide Y receptor Y1
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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Npy2r
neuropeptide Y receptor Y2
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
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Npy5r
neuropeptide Y receptor Y5
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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Slc2a1
solute carrier family 2 member 1
onset
ISO
DNA:deletion, missense mutations, SNP:multiple
RGD
PMID:26537434
RGD:11058811
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
IEP
protein:increased expression:parietal lobe
RGD
PMID:21310218
RGD:9587483
NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
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Atp10a
ATPase phospholipid transporting 10A (putative)
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
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Gabra5
gamma-aminobutyric acid type A receptor subunit alpha 5
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar
PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870
NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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Rorb
RAR-related orphan receptor B
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 2
ClinVar
PMID:9536098 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:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 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:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Clcn2
chloride voltage-gated channel 2
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 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:23632988 PMID:25741868 PMID:28492532
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1
OMIM ClinVar
PMID:17159113 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31875159
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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