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
     autosomal dominant nocturnal frontal lobe epilepsy 3 CHRNB2* Chrnb2* 2 models Alliance of Genome Resources
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
familial temporal lobe epilepsy 1 LGI1* Lgi1* 4 models Alliance of Genome Resources
generalized epilepsy with febrile seizures plus SCN1A* Scn1a* 5 models Alliance of Genome Resources
juvenile myoclonic epilepsy EFHC1* Efhc1* 2 models Alliance of Genome Resources
Lafora disease NHLRC1* Nhlrc1* 3 models Alliance of Genome Resources
Lafora disease EPM2A* Epm2a* 1 model Alliance of Genome Resources
progressive myoclonus epilepsy 1B PRICKLE1* Prickle1* 1 model Alliance of Genome Resources
pyridoxine-dependent epilepsy ALDH7A1* Aldh7a1* 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
epilepsy ALDH5A1 Aldh5a1* 1 model Alliance of Genome Resources
epilepsy ATP6V1B2 Atp6v1b2* 1 model Alliance of Genome Resources
epilepsy BSN Bsn* 1 model Alliance of Genome Resources
epilepsy C1QA C1qa* 1 model Alliance of Genome Resources
epilepsy CACNA2D2 Cacna2d2* 1 model Alliance of Genome Resources
epilepsy CDYL Cdyl* 1 model Alliance of Genome Resources
epilepsy GAD2 Gad2* 1 model Alliance of Genome Resources
epilepsy KCNA1 Kcna1* 1 model Alliance of Genome Resources
epilepsy SCAMP5 Scamp5* 1 model Alliance of Genome Resources
epilepsy SCN8A Scn8a* 1 model Alliance of Genome Resources
epilepsy SLC12A5 Slc12a5* 1 model Alliance of Genome Resources
epilepsy SYN2 Syn2* 2 models Alliance of Genome Resources
generalized epilepsy with febrile seizures plus GABRG2 Gabrg2* 1 model Alliance of Genome Resources
generalized epilepsy with febrile seizures plus SCN1B Scn1b* 1 model Alliance of Genome Resources
idiopathic generalized epilepsy GABRA1 Gabra1* 3 models Alliance of Genome Resources
idiopathic generalized epilepsy DNM1 Dnm1* 2 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
temporal lobe epilepsy SLC32A1 Slc32a1* 1 model Alliance of Genome Resources
temporal lobe epilepsy KCNA1 Kcna1* 1 model Alliance of Genome Resources
temporal lobe epilepsy GLUL Glul* 1 model Alliance of Genome Resources
     autosomal dominant nocturnal frontal lobe epilepsy CHRNB2* Chrnb2   Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 1 CHRNA4* Chrna4 1 "NOT" model Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 4 CHRNA2* Chrna2   Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 5 KCNT1* Kcnt1   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 NPY* Npy   Alliance of Genome Resources
childhood absence epilepsy CACNG3* Cacng3   Alliance of Genome Resources
childhood absence epilepsy GABRB3* Gabrb3   Alliance of Genome Resources
childhood absence epilepsy LGI4* Lgi4   Alliance of Genome Resources
childhood absence epilepsy CACNA1H* Cacna1h   Alliance of Genome Resources
childhood absence epilepsy GRIK1* Grik1   Alliance of Genome Resources
childhood absence epilepsy SLC2A1* Slc2a1   Alliance of Genome Resources
childhood absence epilepsy GABRG2* Gabrg2   Alliance of Genome Resources
developmental and epileptic encephalopathy KCNH5* Kcnh5   Alliance of Genome Resources
developmental and epileptic encephalopathy DEPDC5* Depdc5   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 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
early-onset epilepsy 2 SETD1A* Setd1a   Alliance of Genome Resources
early-onset epilepsy 3 ATP6V0C* Atp6v0c   Alliance of Genome Resources
early-onset vitamin B6-dependent epilepsy 1 PLPBP* Plpbp   Alliance of Genome Resources
epilepsy CP* Cp   Alliance of Genome Resources
epilepsy ABCB1* Abcb1a, Abcb1b   Alliance of Genome Resources
epilepsy ACHE* Ache   Alliance of Genome Resources
epilepsy ATP1A3* Atp1a3   Alliance of Genome Resources
epilepsy BCHE* Bche   Alliance of Genome Resources
epilepsy GDNF* Gdnf   Alliance of Genome Resources
epilepsy KCNB1* Kcnb1   Alliance of Genome Resources
epilepsy POLG* Polg   Alliance of Genome Resources
epilepsy TBX1* Tbx1   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
familial temporal lobe epilepsy 5 CPA6* Cpa6   Alliance of Genome Resources
familial temporal lobe epilepsy 7 RELN* Reln   Alliance of Genome Resources
familial temporal lobe epilepsy 8 GAL* Gal   Alliance of Genome Resources
focal epilepsy NPRL3* Nprl3   Alliance of Genome Resources
focal epilepsy DEPDC5* Depdc5   Alliance of Genome Resources
focal epilepsy NPRL2* Nprl2   Alliance of Genome Resources
focal epilepsy SCN3A* Scn3a   Alliance of Genome Resources
generalized epilepsy with febrile seizures plus 1 SCN1B* Scn1b   Alliance of Genome Resources
generalized epilepsy with febrile seizures plus 10 HCN1* Hcn1   Alliance of Genome Resources
generalized epilepsy with febrile seizures plus 2 SCN1A* Scn1a   Alliance of Genome Resources
generalized epilepsy with febrile seizures plus 9 STX1B* Stx1b   Alliance of Genome Resources
idiopathic generalized epilepsy KCNMA1* Kcnma1   Alliance of Genome Resources
idiopathic generalized epilepsy HCN4* Hcn4   Alliance of Genome Resources
idiopathic generalized epilepsy 10 GABRD* Gabrd   Alliance of Genome Resources
idiopathic generalized epilepsy 11 CLCN2* Clcn2   Alliance of Genome Resources
idiopathic generalized epilepsy 12 SLC2A1* Slc2a1   Alliance of Genome Resources
idiopathic generalized epilepsy 13 GABRA1* Gabra1   Alliance of Genome Resources
idiopathic generalized epilepsy 14 SLC12A5* Slc12a5   Alliance of Genome Resources
idiopathic generalized epilepsy 15 RORB* Rorb   Alliance of Genome Resources
idiopathic generalized epilepsy 8 CASR* Casr   Alliance of Genome Resources
idiopathic generalized epilepsy 9 CACNB4* Cacnb4   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
myoclonic-atonic epilepsy TBC1D24* Tbc1d24   Alliance of Genome Resources
myoclonic-atonic epilepsy SLC6A1* Slc6a1   Alliance of Genome Resources
progressive myoclonus epilepsy EPM2A* Epm2a   Alliance of Genome Resources
progressive myoclonus epilepsy SEMA6B* Sema6b   Alliance of Genome Resources
progressive myoclonus epilepsy SLC7A6OS* Slc7a6os   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
status epilepticus BDNF* Bdnf   Alliance of Genome Resources
temporal lobe epilepsy PDYN* Pdyn   Alliance of Genome Resources
temporal lobe epilepsy NPY* Npy   Alliance of Genome Resources
temporal lobe epilepsy MAPT* Mapt   Alliance of Genome Resources
temporal lobe epilepsy KCNAB1* Kcnab1   Alliance of Genome Resources
temporal lobe epilepsy AQP4* Aqp4   Alliance of Genome Resources
visual epilepsy TUBA1A* Tuba1a   Alliance of Genome Resources
visual epilepsy NPY* Npy   Alliance of Genome Resources
visual epilepsy TBC1D24* Tbc1d24   Alliance of Genome Resources
visual epilepsy TNF* Tnf   Alliance of Genome Resources
visual epilepsy APP* App   Alliance of Genome Resources
visual epilepsy ASPM* Aspm   Alliance of Genome Resources
visual epilepsy CDKL5* Cdkl5   Alliance of Genome Resources
visual epilepsy CNTNAP2* Cntnap2   Alliance of Genome Resources
visual epilepsy FCGR2A*, FCGR2B, FCGR2C Fcgr2b, Fcgr3   Alliance of Genome Resources
visual epilepsy FCGR3A*, FCGR3B Fcgr4   Alliance of Genome Resources
visual epilepsy L2HGDH* L2hgdh   Alliance of Genome Resources
West syndrome STXBP1* Stxbp1   Alliance of Genome Resources
West syndrome MC2R* Mc2r   Alliance of Genome Resources
X-linked epilepsy with variable learning disabilities and behavior disorders SYN1* Syn1   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
  autosomal dominant nocturnal frontal lobe epilepsy 3 Tg(tetO-Chrnb2*V287L)H3Gica 1 model
  epilepsy Tg(Camk2a-Bdnf)A9Stl 1 model
  epilepsy Tg(Eno2-Scn2a1*)Q54Mm 3 models
  epilepsy Tg(RP23-65I14)1Jno 1 model
  epilepsy Tg(RP23-65I14)2Jno 1 model
  familial temporal lobe epilepsy 1 Tg(Lgi1*)#Mpan 1 model
  generalized epilepsy with febrile seizures plus Tg(Scn1a*)RH9Aesc 1 model
  Lafora disease Tg(CAG-EPM2A*C266S)1Bmin 1 model