Myoclonic epilepsy

Disease Term Disease ID Gene Symbol References
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 C1832841 ADRA2B 24114805
CTNND2 29127138
CNTN2 23518707
SAMD12 29939203
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 C1842852 ADRA2B 11701600
STARD7
Juvenile Myoclonic Epilepsy C0270853, 307 CACNB4 23756480, 10762541
CLCN2 23756480, 19191339, 12612585
CTF1 30531953
GABRA1 23934111, 23756480
GABRD 23756480
KCNQ3 12928862
JRK 11463517
CILK1 29539279
EFHC1 31056551, 15258581, 23756480, 28370826, 22690745, 22926142, 17634063, 28475290, 22727576, 19147686
Juvenile Myoclonic Epilepsy of Janz C4551857 CACNB4 10762541
GABRA1
JRK 11463517
EFHC1
Myoclonic Epilepsies, Progressive C0751778 SCARB2 23659519
CHD2
CSTB 8596935, 9054946, 15483648, 17920138, 23205931, 10441148, 9342192, 26843564, 17003839, 9360639, 9012407
ATN1
KCNC1 25401298
NEU1 25401298
SERPINI1 25401298
PRNP 25401298
TSC1 17484760
EPM2A 25246353, 25401298, 14722920, 21623095, 9771710
GOSR2 21549339
CERS1
AFG3L2 25401298
SACS 25401298
CLN6 25401298
PRDM8
TBC1D24 25401298
LMNB2
NHLRC1 25401298
Familial Progressive Myoclonic Epilepsy C0751777 CHD2
ATN1
KCNC1 25401298
NEU1 25401298
SERPINI1 25401298
PRNP 25401298
TSC1 17484760
EPM2A 25401298
GOSR2
CERS1
AFG3L2 25401298
SACS 25401298
CLN6 25401298
PRDM8
TBC1D24 25401298
LMNB2
NHLRC1 25401298
Infantile Severe Myoclonic Epilepsy C0751122 GABRA1 24623842
GABRG2 23093055, 11748509, 21463275
PMP22 17275665
POMC 6088243
SCN1A 30185235, 21480876, 16921370, 16054936, 26438699, 17537961, 12754708, 19332696, 16458823, 21647847, 23808377, 11359211, 23821540, 21463275, 24412860, 23093055, 17928448
SCN1B 23148524, 23093055, 21463275, 19710327
SCN2A 19783390
SCN9A 19763161, 21463275, 18755274, 23895530
STXBP1 24623842, 18469812
RAPGEF2 29507423
TNRC6A 29507423
PCDH19 21463275, 22848613, 19214208, 23808377, 23093055
SAMD12 29507423
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 C4015619 GDF1
CERS1 19243074, 24782409
Myoclonic Epilepsy C0014550 HEXB 7626071
PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423
EPILEPSY, PROGRESSIVE MYOCLONIC 7 C4015420 KCNC1 27629860, 25401298, 28145425, 28380698
Idiopathic Myoclonic Epilepsy C0338478 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423
Symptomatic Myoclonic Epilepsy C0338479 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423
Early Childhood Epilepsy, Myoclonic C0393695 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423
Benign Infantile Myoclonic Epilepsy C0751120 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423
Epilepsy, Myoclonic, Infantile C0917800 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
CPLX1 28422131
TNRC6A 29507423
TBC1D24 20797691, 25769375, 20727515, 28292732, 24291220, 28428906
SAMD12 29507423
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 C3809374 CNTN2
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 C3279627 GOSR2 23449775, 24285620, 21549339
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 C3150860 MARCHF6
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 C4225258 PRDM8 22961547
EPILEPSY, PROGRESSIVE MYOCLONIC, 9 C4225289 LMNB2 16826530, 25954030
EPILEPSY, PROGRESSIVE MYOCLONIC 3 C2673257 KCTD7 22693283, 22606975, 22748208, 22612257, 2274208, 27742667, 17455289
EPILEPSY, PROGRESSIVE MYOCLONIC 2B C1850764 NHLRC1
Familial infantile myoclonic epilepsy 352582 CPLX1
TBC1D24
Myoclonic Epilepsy, Adolescent C4552768 CACNB4 10762541
GABRA1
JRK 11463517
EFHC1
Myoclonic Epilepsy, Juvenile, 1 C4553087 CACNB4 10762541
GABRA1
JRK 11463517
EFHC1
Unverricht-Lundborg disease 308 CSTB
SCARB2
PRICKLE1
Unverricht-Lundborg Syndrome C0751785 SCARB2 19847901
CSTB 26843564, 17003839, 18028412, 15483648, 9360639, 15329070, 27604308, 8596935, 23205931, 9012407, 11814737, 21757863, 22936898, 16155205, 18925453, 20078424, 25288807, 9054946
PRICKLE1 18976727