Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
benign neonatal seizures | KCNQ3* | Kcnq3* | 5 models | Alliance of Genome Resources | |||
benign neonatal seizures | KCNQ2* | Kcnq2* | 5 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 14 | KCNT1* | Kcnt1* | 2 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 16 | TBC1D24* | Tbc1d24* | 1 model | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 17 | GNAO1* | Gnao1* | 3 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 2 | CDKL5* | Cdkl5* | 2 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 39 | SLC25A12* | Slc25a12* | 1 model | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 54 | HNRNPU* | Hnrnpu* | 1 model | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 7 | KCNQ2* | Kcnq2* | 1 model | Alliance of Genome Resources | |||
Dravet syndrome | SCN1A* | Scn1a* | 8 models | Alliance of Genome Resources | |||
juvenile myoclonic epilepsy | EFHC1* | Efhc1* | 2 models | Alliance of Genome Resources | |||
progressive myoclonus epilepsy 1B | PRICKLE1* | Prickle1* | 1 model | Alliance of Genome Resources | |||
Unverricht-Lundborg syndrome | CSTB* | Cstb* | 1 model | Alliance of Genome Resources | |||
childhood electroclinical syndrome | CACNA1A | Cacna1a* | 1 model | Alliance of Genome Resources | |||
early infantile epileptic encephalopathy | SCN8A | Scn8a* | 1 model | Alliance of Genome Resources | |||
early infantile epileptic encephalopathy | GOT2 | Got2* | 2 models | Alliance of Genome Resources | |||
early infantile epileptic encephalopathy | ARX | Arx* | 7 models | Alliance of Genome Resources | |||
Lafora disease | EPM2A | Epm2a* | 1 model | Alliance of Genome Resources | |||
Lafora disease | NHLRC1 | Nhlrc1* | 3 models | Alliance of Genome Resources | |||
Lennox-Gastaut syndrome | DGKD | Dgkd* | 1 model | Alliance of Genome Resources | |||
progressive myoclonus epilepsy | SCARB2 | Scarb2* | 1 model | Alliance of Genome Resources | |||
benign familial infantile seizures 2 | PRRT2* | Prrt2 | Alliance of Genome Resources | ||||
benign familial infantile seizures 3 | SCN2A* | Scn2a | Alliance of Genome Resources | ||||
benign familial infantile seizures 5 | SCN8A* | Scn8a | Alliance of Genome Resources | ||||
benign familial infantile seizures 6 | CHRNA2* | Chrna2 | Alliance of Genome Resources | ||||
benign neonatal seizures | ATP1A2* | Atp1a2 | Alliance of Genome Resources | ||||
childhood absence epilepsy | GABRG2* | Gabrg2 | Alliance of Genome Resources | ||||
childhood absence epilepsy | LGI4* | Lgi4 | Alliance of Genome Resources | ||||
childhood absence epilepsy | NPY* | Npy | Alliance of Genome Resources | ||||
childhood absence epilepsy | SLC2A1* | Slc2a1 | Alliance of Genome Resources | ||||
childhood absence epilepsy | GRIK1* | Grik1 | Alliance of Genome Resources | ||||
childhood absence epilepsy | CACNA1H* | Cacna1h | Alliance of Genome Resources | ||||
childhood absence epilepsy | CACNG3* | Cacng3 | Alliance of Genome Resources | ||||
childhood absence epilepsy | GABRB3* | Gabrb3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy | DEPDC5* | Depdc5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy | KCNH5* | Kcnh5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy | SLC32A1* | Slc32a1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy | SNF8* | Snf8 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy | SV2A* | Sv2a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 1 | ARX* | Arx | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 100 | FBXO28* | Fbxo28 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 101 | GRIN1* | Grin1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 102 | SLC38A3* | Slc38a3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 103 | KCNC2* | Kcnc2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 104 | ATP6V0A1* | Atp6v0a1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 105 | HID1* | Hid1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 106 | UFSP2* | Ufsp2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 107 | NAPB* | Napb | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 108 | MAST3* | Mast3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 109 | FZR1* | Fzr1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 11 | SCN2A* | Scn2a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 110 | CACNA2D1* | Cacna2d1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 116 | GLUL* | Glul | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 12 | PLCB1* | Plcb1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 13 | SCN8A* | Scn8a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 15 | ST3GAL3* | St3gal3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 18 | SZT2* | Szt2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 19 | GABRA1* | Gabra1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 21 | NECAP1* | Necap1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 23 | DOCK7* | Dock7 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 24 | HCN1* | Hcn1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 25 | SLC13A5* | Slc13a5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 26 | KCNB1* | Kcnb1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 27 | GRIN2B* | Grin2b | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 28 | WWOX* | Wwox | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 29 | AARS1* | Aars1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 3 | SLC25A22* | Slc25a22 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 30 | SIK1* | Sik1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 31A | DNM1* | Dnm1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 31B | DNM1* | Dnm1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 32 | KCNA2* | Kcna2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 33 | EEF1A2* | Eef1a2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 34 | SLC12A5* | Slc12a5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 35 | ITPA* | Itpa | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 36 | ALG13* | Alg13 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 37 | FRRS1L* | Frrs1l | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 38 | ARV1* | Arv1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 4 | STXBP1* | Stxbp1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 40 | GUF1* | Guf1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 41 | SLC1A2* | Slc1a2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 42 | CACNA1A* | Cacna1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 43 | GABRB3* | Gabrb3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 44 | UBA5* | Uba5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 45 | GABRB1* | Gabrb1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 46 | GRIN2D* | Grin2d | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 47 | FGF12* | Fgf12 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 48 | AP3B2* | Ap3b2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 49 | DENND5A* | Dennd5a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 5 | SPTAN1* | Sptan1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 50 | CAD* | Cad | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 51 | MDH2* | Mdh2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 52 | SCN1B* | Scn1b | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 53 | SYNJ1* | Synj1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 55 | PIGP* | Pigp | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 56 | YWHAG* | Ywhag | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 57 | KCNT2* | Kcnt2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 58 | NTRK2* | Ntrk2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 59 | GABBR2* | Gabbr2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 60 | CNPY3* | Cnpy3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 61 | ADAM22* | Adam22 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 62 | SCN3A* | Scn3a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 63 | CPLX1* | Cplx1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 64 | RHOBTB2* | Rhobtb2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 65 | CYFIP2* | Cyfip2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 66 | PACS2* | Pacs2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 67 | CUX2* | Cux2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 68 | TRAK1* | Trak1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 69 | CACNA1E* | Cacna1e | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 6B | SCN1A* | Scn1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 70 | PHACTR1* | Phactr1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 71 | GLS* | Gls | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 72 | NEUROD2* | Neurod2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 73 | RNF13* | Rnf13 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 74 | GABRG2* | Gabrg2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 75 | PARS2* | Pars2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 76 | ACTL6B* | Actl6b | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 78 | GABRA2* | Gabra2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 79 | GABRA5* | Gabra5 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 8 | ARHGEF9* | Arhgef9 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 80 | PIGB* | Pigb | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 81 | DMXL2* | Dmxl2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 82 | GOT2* | Got2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 83 | UGP2* | Ugp2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 84 | UGDH* | Ugdh | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 85 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 86 | DALRD3* | Dalrd3 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 87 | CDK19* | Cdk19 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 88 | MDH1* | Mdh1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 89 | GAD1* | Gad1 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 9 | PCDH19* | Pcdh19 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 90 | FGF13* | Fgf13 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 91 | PPP3CA* | Ppp3ca | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 92 | GABRB2* | Gabrb2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 93 | ATP6V1A* | Atp6v1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 94 | CHD2* | Chd2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 95 | PIGS* | Pigs | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 96 | NSF* | Nsf | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 97 | CELF2* | Celf2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 98 | ATP1A2* | Atp1a2 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 99 | ATP1A3* | Atp1a3 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 1 | SAMD12* | Samd12 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 2 | STARD7* | Stard7 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 3 | MARCHF6* | Marchf6 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 4 | YEATS2* | Yeats2 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 5 | CNTN2* | Cntn2 | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 6 | TNRC6A* | Tnrc6a | Alliance of Genome Resources | ||||
familial adult myoclonic epilepsy 7 | RAPGEF2* | Rapgef2 | Alliance of Genome Resources | ||||
juvenile absence epilepsy 1 | EFHC1* | Efhc1 | Alliance of Genome Resources | ||||
juvenile myoclonic epilepsy | BRD2* | Brd2 | Alliance of Genome Resources | ||||
juvenile myoclonic epilepsy 10 | CILK1* | Cilk1 | Alliance of Genome Resources | ||||
microcephaly, seizures, and developmental delay | PNKP* | Pnkp | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy | SLC7A6OS* | Slc7a6os | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy | SEMA6B* | Sema6b | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy | EPM2A* | Epm2a | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 10 | PRDM8* | Prdm8 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 1A | CSTB* | Cstb | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 3 | KCTD7* | Kctd7 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 4 | SCARB2* | Scarb2 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 6 | GOSR2* | Gosr2 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 7 | KCNC1* | Kcnc1 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 8 | CERS1* | Cers1 | Alliance of Genome Resources | ||||
progressive myoclonus epilepsy 9 | LMNB2* | Lmnb2 | Alliance of Genome Resources | ||||
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | TBC1D24* | Tbc1d24 | Alliance of Genome Resources | ||||
West syndrome | MC2R* | Mc2r | Alliance of Genome Resources | ||||
West syndrome | STXBP1* | Stxbp1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
Lafora disease | Tg(CAG-EPM2A*C266S)1Bmin | 1 model |