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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:benign epilepsy with centrotemporal spikes
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Accession:DOID:3329 term browser browse the term
Definition:An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)
Synonyms:exact_synonym: BCECTS;   BECTS;   Benign Childhood Epilepsy With Centro Temporal Spikes;   Benign Epilepsy Of Childhood With Centrotemporal Spikes;   Benign Rolandic Epilepsy;   Benign Rolandic Epilepsy of Childhood;   Centralopathic Epilepsies;   Centralopathic Epilepsy;   Centrotemporal Epilepsies;   Centrotemporal Epilepsy;   ECT;   Rolandic Epilepsies;   Rolandic Epilepsy;   Rolands Epilepsy;   Sylvian Epilepsy;   Temporal-Central Focal Epilepsy;   benign childhood epilepsy with centrotemporal spike;   sylvan seizures
 primary_id: MESH:D019305;   RDO:0000639
 alt_id: OMIM:117100
For additional species annotation, visit the Alliance of Genome Resources.


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benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895, PMID:22872700, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29788201 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935, PMID:9054946, PMID:15329070, PMID:15483648, PMID:16155205, PMID:18028412, PMID:18925453, PMID:20078424, PMID:21757863, PMID:22936898, PMID:25741868, PMID:26843564, PMID:29358611 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017, PMID:25366275, PMID:25741868, PMID:26505888, PMID:28492532, PMID:29358611 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460, PMID:18414213, PMID:23933818, PMID:23933819, PMID:23933820, PMID:25726841, PMID:25904555, PMID:26467025, PMID:26601054, PMID:27288002, PMID:28102150, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:19214208, PMID:19752159, PMID:20713952, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025, PMID:28346479, PMID:28492532, PMID:29358611 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139, PMID:14593429, PMID:24828792, PMID:25620207, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445, PMID:12610651, PMID:18021921, PMID:19200853, PMID:19522081, PMID:21396429, PMID:22550089, PMID:22780858, PMID:23195492, PMID:23398611, PMID:25741868, PMID:26990884, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:28492532, PMID:29358611 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213, PMID:20478850, PMID:24776970, PMID:24848745, PMID:25250524, PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr19:46,761,353...47,695,247 JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by OMIM:300643
ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
OMIM
ClinVar
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049, PMID:27281533, PMID:28492532, PMID:30108545, PMID:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      electroclinical syndrome 395
        absence epilepsy 114
          childhood electroclinical syndrome 76
            benign epilepsy with centrotemporal spikes 36
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 1
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
              Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              electroclinical syndrome 395
                absence epilepsy 114
                  childhood electroclinical syndrome 76
                    benign epilepsy with centrotemporal spikes 36
                      Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 1
                      Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
                      Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 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.