ONTOLOGY REPORT - ANNOTATIONS


Term:Myoclonic Epilepsies
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Accession:DOID:9005154 term browser browse the term
Definition:A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Synonyms:exact_synonym: Cryptogenic Myoclonic Epilepsies;   Cryptogenic Myoclonic Epilepsy;   Early Childhood Epilepsy, Myoclonic;   Idiopathic Myoclonic Epilepsies;   Idiopathic Myoclonic Epilepsy;   Infantile Myoclonic Epilepsies;   Infantile Myoclonic Epilepsy;   Infantile Severe Myoclonic Epilepsy;   Myoclonic Absence Epilepsies;   Myoclonic Absence Epilepsy;   Myoclonic Astatic Epilepsies;   Myoclonic Astatic Epilepsy;   Myoclonic Encephalopathies;   Myoclonic Encephalopathy;   Myoclonic Epilepsy;   Myoclonic Seizure Disorder;   Myoclonic Seizure Disorders;   Myoclonus Epilepsies;   Myoclonus Epilepsy;   Symptomatic Myoclonic Epilepsies;   benign infantile myoclonic epilepsy;   symptomatic myoclonic epilepsy
 narrow_synonym: Epilepsy, generalized myoclonic, with photosensitivity
 primary_id: MESH:D004831
 alt_id: OMIA:002095;   RDO:0001656
For additional species annotation, visit the Alliance of Genome Resources.


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Myoclonic Epilepsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 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 Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:6482231
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:11554173
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:11554173
RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11554173
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584 193,146,403 RGD:11554173
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:8554872
RGD:7240710
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin family member 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710
early myoclonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd1c jumonji domain containing 1C JBrowse link 20 22,751,743 22,914,080 RGD:8554872
G Kcnd2 potassium voltage-gated channel subfamily D member 2 JBrowse link 4 48,309,283 48,816,804 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
Familial Adult Myoclonic Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
RGD:7240710
Familial Adult Myoclonic Epilepsy, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adra2b adrenoceptor alpha 2B JBrowse link 3 119,805,941 119,809,987 RGD:7240710
Familial Adult Myoclonic Epilepsy, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn2 contactin 2 JBrowse link 13 49,280,913 49,314,061 RGD:7240710
RGD:8554872
Familial Adult Myoclonic Epilepsy, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584 193,146,403 RGD:8554872
RGD:7240710
Familial Adult Myoclonic Epilepsy, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:8554872
RGD:7240710
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7207386
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:7240710
RGD:8554872
Jankovic Rivera Syndrome 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:7240710
RGD:8554872
juvenile myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd2 bromodomain containing 2 JBrowse link 20 3,910,555 3,921,074 RGD:1358444
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:11554173
RGD:8554872
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:7240710
RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:7240710
RGD:8554872
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:7240710
RGD:8554872
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:7240710
RGD:8554872
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Myoclonic Epilepsy, Familial Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
RGD:11537392
Myoclonic-Atonic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:7240710
RGD:8554872
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
RGD:7240710
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
Progressive Myoclonic Epilepsy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm8 PR/SET domain 8 JBrowse link 14 13,052,776 13,073,583 RGD:7240710
RGD:8554872
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:8554872
Progressive Myoclonic Epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd7 potassium channel tetramerization domain containing 7 JBrowse link 12 30,024,080 30,033,357 RGD:7240710
RGD:8554872
Progressive Myoclonic Epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:7240710
RGD:8554872
Progressive Myoclonic Epilepsy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gosr2 golgi SNAP receptor complex member 2 JBrowse link 10 91,735,772 91,756,123 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
Progressive Myoclonic Epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnc1 potassium voltage-gated channel subfamily C member 1 JBrowse link 1 102,414,352 102,456,718 RGD:7240710
RGD:8554872
Progressive Myoclonic Epilepsy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
RGD:7240710
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
Progressive Myoclonic Epilepsy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:8554872
RGD:7240710
progressive myoclonus epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd18 abhydrolase domain containing 18 JBrowse link 2 127,770,588 127,828,218 RGD:8554872
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:8554872
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11554173
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:11554173
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:11554173
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:11554173
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:11554173
RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:8554872
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 3 177,012,714 177,047,787 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:9685621
RGD:8554872
RGD:11554173
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gosr2 golgi SNAP receptor complex member 2 JBrowse link 10 91,735,772 91,756,123 RGD:8554872
RGD:11554173
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G Kcnc1 potassium voltage-gated channel subfamily C member 1 JBrowse link 1 102,414,352 102,456,718 RGD:11554173
G Kctd7 potassium channel tetramerization domain containing 7 JBrowse link 12 30,024,080 30,033,357 RGD:8554872
RGD:13592920
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:11554173
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:11554173
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:724387
RGD:6480499
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdm8 PR/SET domain 8 JBrowse link 14 13,052,776 13,073,583 RGD:11554173
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:11554173
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:8554872
RGD:13592920
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:11554173
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:11554173
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:11554173
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
Unverricht-Lundborg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            epilepsy 1017
              Myoclonic Epilepsies 93
                Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                Congenital Deafness and Familial Myoclonic Epilepsy 0
                Dravet syndrome 4
                Familial Adult Myoclonic Epilepsy, 1 1
                Familial Adult Myoclonic Epilepsy, 2 1
                Familial Adult Myoclonic Epilepsy, 3 0
                Familial Adult Myoclonic Epilepsy, 5 1
                Familial Adult Myoclonic Epilepsy, 6 1
                Familial Adult Myoclonic Epilepsy, 7 1
                Feigenbaum Bergeron Richardson Syndrome 0
                Hydroxylysinuria 0
                Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                Myoclonic Epilepsy, Familial Infantile 6
                Myoclonic Epilepsy, Hartung Type 0
                Myoclonic-Atonic Epilepsy 1
                Photoparoxysmal Response 3 0
                Spastic Paraplegia with Myoclonic Epilepsy 0
                early myoclonic encephalopathy + 3
                familial encephalopathy with neuroserpin inclusion bodies 3
                juvenile myoclonic epilepsy 8
                progressive myoclonus epilepsy + 61
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            movement disease 993
              Dyskinesias 713
                Myoclonus 96
                  Myoclonic Epilepsies 93
                    Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                    Congenital Deafness and Familial Myoclonic Epilepsy 0
                    Dravet syndrome 4
                    Familial Adult Myoclonic Epilepsy, 1 1
                    Familial Adult Myoclonic Epilepsy, 2 1
                    Familial Adult Myoclonic Epilepsy, 3 0
                    Familial Adult Myoclonic Epilepsy, 5 1
                    Familial Adult Myoclonic Epilepsy, 6 1
                    Familial Adult Myoclonic Epilepsy, 7 1
                    Feigenbaum Bergeron Richardson Syndrome 0
                    Hydroxylysinuria 0
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Myoclonic Epilepsy, Familial Infantile 6
                    Myoclonic Epilepsy, Hartung Type 0
                    Myoclonic-Atonic Epilepsy 1
                    Photoparoxysmal Response 3 0
                    Spastic Paraplegia with Myoclonic Epilepsy 0
                    early myoclonic encephalopathy + 3
                    familial encephalopathy with neuroserpin inclusion bodies 3
                    juvenile myoclonic epilepsy 8
                    progressive myoclonus epilepsy + 61
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.