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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:8554872
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Depdc5 DEP domain containing 5 JBrowse link 14 83,089,000 83,219,576 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:8554872
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
RGD:8554872
G Ier3ip1 immediate early response 3 interacting protein 1 JBrowse link 4 132,140,802 132,152,059 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Rbfox1 RNA binding fox-1 homolog 1 JBrowse link 10 8,312,961 10,437,778 RGD:8554872
G Rbfox3 RNA binding fox-1 homolog 3 JBrowse link 10 107,517,916 107,850,764 RGD:8554872
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:8554872
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    syndrome 4817
      electroclinical syndrome 285
        absence epilepsy 96
          childhood electroclinical syndrome 73
            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, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 0
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      nervous system disease 9229
        central nervous system disease 6942
          brain disease 6442
            epilepsy 1023
              electroclinical syndrome 285
                absence epilepsy 96
                  childhood electroclinical syndrome 73
                    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, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 0
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.