Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      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.
     Disease Term Transgenes and Other Genome Features Mouse Models
  Lafora disease Tg(CAG-EPM2A*C266S)1Bmin 1 model