SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00500994

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Neurobiological Studies of Psychogenic Movement Disorders and Non-Epileptic Seizures

This study is part of a series of studies that will explore how the mind and the brain work to cause episodes of uncontrollable shaking in people who have no known underlying brain or medical disorder. The study is conducted at NIH and at the Brown University Rhode Island Hospital. Healthy volunteers and people with psychogenic movement disorders (PMD) or non-epileptic seizures (NES) who are 18 years of age or older may be eligible for this study. Patients with NES have 3 teaspoons of blood drawn. The blood is tested for two genes that are normally found in healthy individuals to see if they are found more frequently in patients with uncontrolled shaking. Patients with PMD have blood drawn for testing and also undergo functional magnetic resonance imaging (fMRI) to look at how the brain functions while the subject performs a specific task. MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues. During the scan, the subject lies on a table that can slide in and out of the scanner, a metal cylinder. The scan lasts about 60 to 90 minutes, during which the subject may be asked to lie still for up to 10 minutes at a time and to perform tasks, such as identifying the gender of faces shown on a screen. Healthy volunteers may have blood drawn for genetic testing or fMRI or both.

NCT00500994 Psycogenic Movement Disorders Non-epileptic Seizures
MeSH: Disease Seizures Movement Disorders
HPO: Abnormality of movement Focal-onset seizure Generalized tonic-clonic seizures Generalized-onset seizure Seizures



Time Perspective: Prospective


There is one SNP

SNPs


1 rs1360780

Exploratory objectives are to investigate in CD patients: - The frequency of several gene polymorphisms that are implicated in stress and affective disorder, including 5HTTLPR S/S (serotonin receptor), COMT (catechol-o-methyltransferase enzyme), Val/Met BDNF (brain-derived neurotrophic factor) and FKBP5 rs1360780 genotypes, as well as other polymorphisms or mutations to be determined later.



HPO Nodes


HPO:
Abnormality of movement
Genes 1635
MAG NAT8L AARS ABAT ABCA1 MAK ABCB7 ABCA4 ZFYVE27 MAN2B1 MANBA MAOA ACAT1 ACAT2 MAPT DNAJC19 MARS MAT1A KDM5C ACO2 SMC1A ACOX1 MATN3 MAX ACTA1 ACTB SLC6A19 CD109 SCYL1 NAA10 SAMD12 ISCA2 AK9 ACY1 MDH2 DYSF COLQ ADAR PLEKHG5 MECP2 KLRC4 ARSI ADCY5 SLITRK1 ADCY6 MEF2C MEFV GATAD2B MYORG ADD3 TBC1D24 SLC12A5 MEN1 SHROOM4 TTC8 ADRA2B MGAT2 KIDINS220 NLGN4X ADSL AARS2 CIITA AGA ACAN HECW2 JAG1 PCDH19 HACE1 ARL13B ATXN3 AHR MLH1 CC2D2A KMT2A PLA2G6 AKT1 ABCD1 MME MMP2 CEP126 ALDH3A2 TRMT5 MMP13 LTBP4 ALDH6A1 KCNT1 MOCS1 MOCS2 ALPL WDR48 CUL4B MPV17 MPZ MRE11 AMPD2 BIN1 AMT ANK3 DCPS OFD1 OSTM1 SLC25A4 PRSS12 PPM1D KLHL40 FLVCR1 PEX3 CNTNAP1 KCNAB2 APC IKBKG ELP1 KIAA1549 ALS2 APOB MSH2 ZSWIM6 APP FANCM FAS GBA2 SLC7A14 TCAP CDK10 AR ABCC6 PRX ARCN1 ARF1 EPG5 CASK MTFMT PRKRA ARG1 SPTBN4 SETD2 ARL3 NDUFAF4 TNFSF11 ARSA SLC25A12 STS ATP6 ATP8 COX1 COX2 UBE2T COX3 ARVCF CYTB FEZF1 ASAH1 MTHFR PDE8B RFXANK JRK MTM1 TBK1 ND1 ASNS ND2 ND3 ND4 RNASET2 ND4L ND5 ND6 MTTP MTR RNR1 MRPS34 FLCN MTRR DDRGK1 TRNE TRNF C11ORF95 TRNH TRNI TRNK TRNL1 ATM TRNL2 RERE TRNN TRNP ATP1A1 TRNQ ATP1A2 ATP1A3 TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW STX16 ATP2B3 TRIM37 MUSK MMUT ALDH7A1 PHACTR1 LYRM7 ATP5F1D MYF5 MYF6 ATP6V1A MYH2 MYH7 CTSF EED MYL2 ATP7A ATP7B GPAA1 ATR ATRX KIF1A MYO5A AUH MYO9A MYOD1 NEXMIF LRSAM1 STAC3 NAGA NAGLU BBS1 PWRN1 BBS2 FGFRL1 NBN NDN NDP NDUFA1 UROC1 NDUFA2 NDUFA4 PEX11B NEB NDUFA9 NDUFA10 SUCLG1 SUCLA2 BCR BCS1L NDUFB8 DPM1 NDUFS1 NDUFS2 DPM2 NDUFS3 NDUFV1 HESX1 NDUFS4 FGF17 NDUFS8 NDUFV2 SYNGAP1 CCN6 NEFH FCSK PROM1 NEFL NEK2 BMPR1A NEU1 NEUROD2 DST BRCA1 BRAF BRCA2 SYNJ1 NF2 ST3GAL5 SQSTM1 MCM3AP EIF2B4 EIF2B3 EIF2B2 EIF2B5 SCAPER AP1S2 SGCE CACNA1H C4A CACNA1G NIPA1 HERC2 HERC1 NME1 BRAT1 NONO KYNU AP3D1 NOTCH3 CA4 PNP CA8 NPC1 NPHP1 CACNA1A CACNA1B RNU12 SFXN4 CACNA1D CACNA1E CACNA1S CACNB4 CAD HSPB3 NRAS NOL3 NRL PRICKLE1 CAMK2A CAMK2B HCN1 NTRK1 NTRK2 CAPN1 CAPN3 NUP88 NR4A2 BAZ1B CRPPA CASR OCRL SYT2 AIP CAV1 GPR88 CHAMP1 OGDH OPA1 OPHN1 USP8 SMC3 PRPF4 PRPF3 AIFM1 CD28 SCARB2 ENTPD1 PRDX1 PAH CTDP1 SLC6A5 TREM2 PAK1 CD59 PAK3 PRKN PARN PAX1 PAX6 AP4M1 ARHGEF2 PC PCBD1 PCCA PCCB SLC33A1 HACD1 PCNA OTOG CDK5 PCNT XPR1 CDK6 LARGE1 CHMP1A SLC25A46 VAPB SDHAF1 TMEM67 LRAT RAB11B PDE4D NOG PDE6A PDE6D PDE6G PDGFB PDE6B AIMP1 PDGFRB PDHA1 PDK3 ENPP1 CFL2 PDYN COPB2 GLYCTK GDAP1 PEX1 PEX6 PEX7 DPM3 PEX10 ADGRG1 PEX12 PEX13 PEX14 CHAT CHD1 CHD2 CHD3 CHD4 CHKB PFN1 CHN1 TRIP12 LYST TRIP4 ZNHIT3 CHRNA1 PGK1 CHRNA2 CHRNA7 CHRNB1 SLC39A13 PGM3 CHRND CHRNE CHRNG SNAP29 PRUNE1 ERCC8 PNPT1 COLEC11 PHYH SERPINI1 PLAA CLCN2 PIGA CLCN7 NRXN1 CLCNKA NALCN CLCNKB PIK3CA TPP1 CLN3 DSTYK HS6ST1 CLN5 RAB3GAP2 CLTC PITX3 RETREG1 SNX10 CIZ1 FBXO7 PEX16 ASPM FSCN2 TSEN34 CYP7B1 CCR1 NTN1 ATXN10 PLEC PLG MTO1 MED17 PYCR2 TMCO1 TXN2 ITM2B GMPPB GMPPA PLOD1 ALG6 CNGB1 PLP1 CNGA1 EIF2AK3 NIPBL COG4 NAXE PUS7 CNTN1 CHST3 PMM2 PMP2 COL2A1 PMP22 COL4A1 POMT2 PMS1 COL6A1 COL6A2 COL6A3 PIGL COL9A1 EXOSC9 COL9A2 COL9A3 PMS2 COL10A1 COL11A2 COL12A1 MAGEL2 TBX4 COL13A1 UBQLN2 MYOT NDUFAF5 POC1A COMP COMT PLEKHG4 MBOAT7 PMPCB FKRP LITAF PODXL FA2H RRM2B POLG SMARCAL1 B3GALNT2 COX6A1 RTTN NDUFAF3 BAG3 POLR1C ATL3 COX10 COX15 CP POU3F4 TSEN54 SAMHD1 TMEM43 SIN3A CPT1A GABBR2 PNKD GTF2IRD1 GOSR2 CRAT CREBBP PREPL SH2B1 MMACHC CRKL NECAP1 CHMP2B CRX CRYAB UGT1A1 TMEM106B PPP2R1A PPP2R2B GTPBP2 PPP3CA SNCAIP TENM4 NSMF CSF1R KANSL1 SEC24C CYP2R1 PPT1 PDP1 CSNK2A1 NUS1 C12ORF65 SETBP1 CEP135 CNTNAP2 CEP41 GEMIN4 CSTB AUTS2 MPLKIP PRKAR1A KBTBD13 PRKAR1B GIGYF2 SLC13A5 PRKCG CTBP1 PNPLA8 CTH CTLA4 CTNNA2 MAPK1 CTNND2 PUM1 MAPK10 IL17RD ABHD12 DNAJC3 RUBCN PRNP PROC PRODH SEMA3E PRPS1 CEP104 PRPF31 TCTN3 IFT140 TRIT1 CNNM2 HTRA1 AHI1 NDUFS7 DYM ZBTB20 PSAP DCAF8 KMT2B FRMPD4 HDAC4 PSEN1 PSEN2 NDE1 EARS2 PET100 IFT172 VPS13C MATR3 APTX CYP27A1 DHX38 CYP27B1 KIAA0586 DAB1 PSMB8 DAG1 CC2D1A DARS DBH QRICH1 NHLRC2 PIGG DCC GPR101 PTCH1 PTEN DNAJC6 DCTN1 NSUN2 NEK9 DDB2 DDC PTH1R DDOST PHGDH SNORD116-1 DDX3X TTC19 MKS1 KIAA0753 FBXL4 RUSC2 NSDHL DES TIMM8A ADPRHL2 CEP120 RNF125 DHH HIBCH PROKR2 TINF2 SDHAF2 TELO2 CANT1 SACS TECPR2 FIG4 WASHC5 PTS AP5Z1 DGUOK DHCR7 C19ORF12 PURA DHFR TMEM70 PEX19 ABCD4 PEX2 PEX5 CLN6 MFN2 DKC1 KIF14 ALDH18A1 DLAT DLD MAFB RAB39B DMD RFT1 SLC52A2 SARDH RMND1 TMEM231 DNM1 CARS2 DNA2 QARS QDPR TSEN15 PHIP MED12 DNASE1L3 TRAPPC9 HSPB8 TCTN1 DYNC1H1 IL23R JAM3 WDR62 RAC1 DNM2 DNMT1 IMPG2 RAD21 RAD51 RAD51C DOCK3 HNRNPDL RNASEH2B DPAGT1 SLC12A6 DPP6 SCO2 SH3TC2 DPYD EFL1 DPYS RANBP2 NR2E3 DRD2 RAPSN RARS ATN1 MCPH1 GNE NDUFAF2 COG7 DUSP6 RBP3 ASCC1 DNAJB6 EXOSC3 DYRK1A TOR1A RDH12 PRPH2 ABCB6 DNM1L MRPS16 FANCL PAM16 RELA DPF2 ANO10 HUWE1 RET PRRT2 RFC1 RFC2 TYMP PQBP1 ECHS1 ECM1 COL4A3BP THAP1 RFX5 RFXAP RGR MTPAP PALB2 MSTO1 DARS2 ATL1 TSFM PHC1 KCTD17 RFWD3 RHO KIF7 PNPO MKRN3-AS1 EEF1A2 RLBP1 SLC25A22 NDUFA13 SLC17A5 CCDC88C RMRP SNIP1 POLR1D LINS1 MLXIPL DNAL4 LRPPRC EEF2 EYS SEPSECS VPS13D OPTN BCAP31 ABHD5 EGF MECR EGR2 TRAPPC12 MYH14 SETD5 ZDHHC9 ATAD3A AASS EIF2B1 ATP6AP2 SBDS FANCI EIF2S3 IER3IP1 ZNF408 ALG9 SLC25A15 SAR1B SYT14 RLIM EIF4G1 EHMT1 CHCHD2 SPRED1 TRPV4 UBAC2 ROM1 RORA GNB4 ELP2 ALG3 BSCL2 RP9 RP1 ELN RP2 RPGR EMD C8ORF37 TANGO2 MAP11 TOPORS RPE65 CSPP1 TBL2 CWF19L1 EP300 CRBN TCTN2 ALG13 NHLRC1 GPHN TACO1 UBA5 CLN8 EPRS ERBB3 GLRX5 ERBB4 ERCC1 SLC29A3 ERCC2 ERCC3 BRIP1 ERCC4 ERCC5 ERCC6 PIGP RNF168 ZMPSTE24 UFSP2 STUB1 ACER3 SIGMAR1 PYROXD1 CDHR1 SPEG RPS6KA3 APC2 TMEM216 KATNB1 LRRK2 WDR81 TCIRG1 L2HGDH DHDDS RPS20 EXT1 KLHL41 EXT2 RXYLT1 EYA1 PCDH12 RREB1 TFG ABCA7 REEP2 RTN2 WARS2 RYR1 STN1 WAC SPG21 MICU1 FANCA FANCC FANCD2 FANCE SEMA3A ARL6 ACSL4 FANCB FANCF TUBB3 FANCG TUBB4A FAT2 SAMD9L SAG FBN1 PANK2 NDRG1 SBF1 SC5D ATXN1 ATXN2 FKTN ATXN7 ATXN8OS FAM161A FDX2 STRADA SCN1A SCN1B SCN2A PGAP1 RNASEH2C SCN3A SCN4A SCN8A SCN9A DCAF17 FGD1 PRCD SCP2 FGF8 FGF12 FGF14 FGFR1 TOMM40 FGFR3 FGFR2 PWAR1 MAD2L2 MERTK FH SLC30A9 PIBF1 FHL1 POMK DHTKD1 SLC30A10 SLC9A6 FOXG1 SDHA SDHB SDHC SDHD FLI1 FLII FLNA FLNC FBLN5 FOXRED1 VPS37A DEAF1 FMR1 AFF2 FN1 NOP56 RNASEH2A CTC1 PTF1A SGCA NACC1 PUF60 SGCB SGCD HIKESHI SGCG SGSH UFC1 TTI2 ARX SPTLC1 SLC35A1 FUZ NTNG1 POMGNT1 ICK UQCC2 FBXO11 SLC39A4 OPA3 NPC2 SPG11 CNKSR2 ARMC9 CHD7 ST3GAL3 FLVCR2 POMT1 TMEM107 FXN STIL SIM1 MORC2 NUBPL SKI PRPF8 PIGV CCDC141 TMEM127 WDR26 SLC1A2 SLC1A4 COA8 UFM1 SLC2A1 SLC2A3 ERLIN1 PEX26 CYFIP2 STAMBP TRAK1 DHX30 FAN1 CEP63 SLC6A1 TPK1 SLC6A3 SLC6A8 TRMU SLC6A9 LIPT1 VAC14 RAB3GAP1 RAB18 IARS2 PIGT SLC9A1 MLH3 PIEZO2 POLR3B CCDC88A DKK1 CCT5 WDR11 SLC16A2 TRIM32 FARS2 SLC18A2 SLC18A3 SLC20A2 SLC25A1 OTUD6B SLCO2A1 GNB5 VPS35 XPNPEP3 EBP NAXD CXORF56 TIMM50 NT5C2 B9D1 SMARCB1 CNPY3 MAST1 SMARCC2 DNAJC5 CDK5RAP2 FOXP1 SMN1 ZFR FTL NDUFAF6 UQCRQ SMPD1 SMS CEP152 FUCA1 NGLY1 SNAP25 FUS COASY CERS1 AP4B1 TBC1D23 SNCA C9ORF72 OCLN TDP1 MBD5 ERMARD MCTP2 PRDM16 YME1L1 SNRNP200 TRAPPC2L ANO3 SNRPN STAG2 SLX4 MEGF10 UNC80 GAA RAI1 SOD1 MGME1 GABRA1 GABRA3 KIF1C SORL1 GABRB2 GABRB3 GABRD TNIK SNORD115-1 SPATA7 SOX5 GABRG2 SOX10 CERKL GAD1 KDM5B GALC UPB1 B4GALNT1 SETX NKX6-2 EMC1 ADAT3 SPAST CENPJ WWOX SPG7 GALT GAMT WDR4 RTEL1 ERAP1 SPR SEPTIN9 ATP8A2 KIZ INPP5K NADK2 GJB6 SPTAN1 KIF1B SPTBN2 IQSEC2 GARS HDAC8 ASH1L CPLX1 MAP3K20 GATA4 GBA SPART GBE1 CDH23 SRP54 NFASC SIK1 GCDH SLC46A1 GCH1 GCK MCCC2 COL25A1 GCSH PDE10A TUBA8 ZC4H2 COQ2 ANKLE2 ADA2 GFER CIC MMADHC GFPT1 NAGS SLC39A8 GGT1 STAT4 SNORD118 SLC52A3 ELOVL4 STIM1 LPIN1 IFIH1 CDKL5 GJA1 TTBK2 GJB1 GJB2 ZNF469 KANK1 KLHL9 KISS1R PNPLA6 STXBP1 GLA NDUFA12 GLB1 PMPCA ARL6IP1 SUOX KLHL7 REEP6 FGD4 GLDC GLE1 ABCC8 SURF1 GLRA1 RHOBTB2 SUMF1 GLRB MYPN SYNE2 GLUD1 AFG3L2 VAMP1 FAM126A VPS13A GLUL PLCB1 SMG9 HYLS1 GM2A SYT1 PACS2 LIPT2 GNA11 IRF2BPL KIAA0556 GNAL TACR3 GNAO1 GNAQ TAF1 TAF2 GNAS SEMA4A DENND5A DDHD2 CAMTA1 GNB1 TAF6 CLP1 GPT2 TAF13 GNS TAT TBX1 CNTN2 ALG1 TAZ AGTPBP1 TBCD GP1BA GP1BB TBP TLK2 BICD2 MARS2 LIAS TCF4 NCAPD3 HNF1A DMXL2 SATB2 CUX2 DNAJC13 TRIM2 RPGRIP1L B4GAT1 MID2 HTRA2 TCOF1 SZT2 BEAN1 SYNE1 PCLO DOK7 HGSNAT SLC19A3 NSD1 ARHGEF18 GRIA3 GRIA4 GRID2 GRN GRIK2 ADAMTS13 GRIN1 LMNB2 GRIN2A GRIN2B GRIN2D GRM1 ADNP PRDM5 TERT ATP13A2 CIT TSEN2 SIL1 POLR3A GSS CRB1 KPTN TGFB1 MMAA TGFB3 IL1RAPL1 AP4E1 TGFBR2 TARDBP LMOD3 MSH6 BVES ORAI1 MFSD2A TH CORO1A WDR45 GTF2E2 AP4S1 LDB3 ERLIN2 GTF2I THRA THRB POMGNT2 TIA1 ATAD1 GUCA1B MTMR14 INF2 NKX2-1 IL12A-AS1 TK2 TKT GYG1 ASXL3 ETHE1 DDHD1 PPP1R15B GUCY2D TLR4 CKAP2L MACF1 PLPBP CYP2U1 WDR45B WDR73 ZFYVE26 SERAC1 HSD17B10 HADHA HADHB LNPK HAL KCNJ18 HARS SLC39A14 TNFRSF1B POLG2 SLC25A19 TNNT1 AGRN PIK3R5 HCFC1 TOP3A HTT TPI1 PIGY TPM2 HEXB TPM3 PIGN TREX1 ARL2BP PNKP HINT1 HIVEP2 HK1 PGAP3 REPS1 HLA-B TRIO MICOS13 PDSS1 LEMD3 AMACR PARK7 TRPC3 GDF6 ELOVL5 SLC5A7 DNAJC21 ANO5 TSC1 TSC2 HMGCL NUP62 TSHR TSPYL1 AGBL5 PLD3 HNF4A ATXN8 TTN HNRNPA1 TTPA TUB TTR HNRNPA2B1 HNRNPH2 TULP1 HIRA TWIST1 HPCA TYROBP GUF1 UBA1 KCNQ5 UBE3A UBTF CPT1C HPGD UCHL1 ALG14 HPRT1 FRRS1L UFD1 NPAP1 HRAS GTF2H5 DNAJC12 FLRT3 FLRT1 HSD17B4 DNAJB2 USH2A CLRN1 HSPB1 VCP VDR HSPD1 PROK2 KCTD7 VHL FKBP10 HSPG2 TRAPPC11 VLDLR BEST1 VRK1 ARV1 CLIP2 WFS1 WHCR NSD2 NELFA WNT1 INPP5E ATCAY KLC2 TWNK XK XPA XPC IDH1 PLEKHG2 SLC34A3 IDH2 XRCC1 IDH3B XRCC2 XRCC4 IDUA LGI4 YY1 YWHAG SHANK3 TOE1 ALG2 JPH1 IFRD1 IGF1 BCL11B IGHMBP2 TBCK SELENOI GFM1 TMEM240 PINK1 ZNF513 MKRN3 IL10 IL12A IBA57 CHCHD10 IMPDH1 REEP1 ACD TMEM237 SLC6A17 RNF113A IPW TUBB2B PRPF6 UPF3B ITGA2 ITGA2B MCCC1 TGM6 ITGA7 WNK1 ITGB3 MFF ITPA ITPR1 BSND FBXO38 ANOS1 PRDM8 EFHC1 KARS KCNA1 KCNA2 KCNA4 KCNB1 KCNC1 CLPB KCNC3 COQ8A KCND3 CXCR4 KCNJ6 WNT3A KCNJ10 TRAPPC6B COQ9 KCNMA1 RAB7A KCNQ2 KCNQ3 RARS2 VWA3B KIF5A CPLANE1 ALDH5A1 KIF11 KNL1 ADSSL1 KRAS C12ORF4 PNPLA2 EPM2A ISCA1 AIMP2 EBF3 PIGS L1CAM KAT6A LAMA2 LAMB2 GJC2 PCARE LAMP2 LBR THOC2 SHOC2 SELENON BOLA3 MCOLN1 JMJD1C LETM1 PDHX RNF170 LHCGR LIFR KY LIG4 SNX14 LIMK1 AAAS HMGA2 LMNA LMNB1 IFT88 PABPN1 VANGL1 CCBE1 ARID2 SBF2 AP3B2 SPRY4 MED25 LRP4 SASS6 LRP5 GAN EPCAM JPH3
Focal-onset seizure
Genes 83
NHLRC1 GABRB3 KCTD7 GABRG2 SLC25A22 CLN8 CACNA1D SDHAF1 GAL FLNA MICAL1 TUBB3 VPS11 RELN AP4S1 CUX2 EPM2A SRPX2 ADRA2B KCNA1 STXBP1 RARS SLC12A3 NEDD4L TMTC3 MAP1B CLCNKB MBOAT7 SZT2 FIG4 MTOR GLI3 FA2H SCN1A POLG SCN1B PCDH19 SCN2A HACE1 CYP26C1 ARHGEF9 SCN8A CNTNAP2 SCN9A SAMD12 ARFGEF2 LAMA2 PLCB1 SYN1 FMN2 KCNQ2 KCNQ3 CRIPT SIK1 PNPLA8 TSC1 TSC2 CHD2 SMS ATXN10 CTNND2 PRRT2 CAMTA1 GNB1 TMEM231 DNM1 MAPK10 ERMARD KCNT1 CHRNA4 DYNC1H1 STX1B PHGDH CNTN2 SDHA SDHB ARF1 POLR3A SDHD TBC1D24 GABRA1 LGI1 SLC12A5
Generalized tonic-clonic seizures
Genes 120
NHLRC1 GABRB3 GPHN GABRD KCTD7 GABRG2 CPA6 CLN8 CACNA1D TRAPPC11 MICAL1 CACNB4 RELN PDSS2 CUX2 EPM2A PSAP GPAA1 PSEN1 MAPT INS FA2H POLG ZFP57 CPLX1 PDX1 SAMD12 DHDDS ICK SIK1 LAMC3 GRN CHD2 GCK ADGRV1 LBR PSPH COQ2 COL4A3BP SP110 SLC2A1 STX1B PHGDH STAT3 HNRNPU TBC1D24 CHMP2B SLC12A5 SLC6A1 TMEM106B NEK1 EFHC1 ADRA2B ATP6 STXBP1 CLCN2 TRNC COX1 COX2 COX3 ST3GAL5 CYTB SQSTM1 ATP6AP2 ABCC8 SCN1A SCN1B JRK GYS1 PCDH19 SCN2A KCNJ11 ND1 ND2 SLC22A5 ND3 ND4 HACE1 AFG3L2 ND5 BUB1B ND6 SCN8A SCN9A TREM2 KCNMA1 CSTB KCNQ2 KCNQ3 PLAGL1 TRNF CACNA1H TRNH TRNK NIPA1 TRNL1 CERS1 TRNQ ATP1A2 SARDH GNB1 TRNS1 DNM1 TRNS2 C9ORF72 TRNV SLC25A19 TRNW MAPK10 GPT2 TXN2 HYMAI ALDH5A1 AP3D1 SLC9A6 CNTN2 ALDH7A1 VCP GABRA1 LGI1
Generalized-onset seizure
Genes 194
NHLRC1 GABRB3 GPHN GABRD GABRG2 CLN8 SDHAF1 RELN TRIT1 ERCC2 ERCC3 PSAP GPAA1 PSEN1 NDE1 MAPT INS NEXMIF RNF113A ZFP57 CPLX1 PDX1 SAMD12 GBA DHDDS SIK1 LAMC3 CHD2 GCK NDUFA1 ADGRV1 PSPH PCDH12 COQ2 GDI1 STX1B PHGDH STAT3 HNRNPU TBC1D24 RNU4ATAC SLC12A5 ELOVL4 CDKL5 NEK1 PRDM8 EFHC1 ADRA2B STXBP1 CLCN2 PIGA GLB1 ST3GAL5 SQSTM1 BTD ABCC8 SCN1A SCN1B PCDH19 SCN2A DHFR KCNJ11 NFKB2 GLUD1 HACE1 AFG3L2 BUB1B ARHGEF9 SCN8A SCN9A KCNMA1 PLCB1 GTF2H5 ACSF3 KCNQ2 KCNQ3 PLAGL1 CACNA1H FGFR3 ATXN10 NIPA1 GNAO1 SARDH GNB1 DNM1 GPT2 BRAT1 TXN2 HYMAI ALDH5A1 AP3D1 SLC9A6 TRAPPC9 CNTN2 SDHA SDHB VCP SDHD KCTD7 CPA6 CACNA1D TRAPPC11 COG2 MICAL1 CACNB4 PDSS2 CUX2 EPM2A OSTM1 MBOAT7 SZT2 PRICKLE1 CAMK2A FA2H POLG ARX LAMA2 ICK GRN XK ANO10 LBR PRRT2 NUBPL GOSR2 COL4A3BP SP110 SLC2A1 CHMP2B SLC6A1 SLC25A22 TMEM106B GTF2E2 SLC35A3 ATP6 TRNC KCNT2 COX1 COX2 COX3 CYTB ATAD3A ASAH1 TK2 ATP6AP2 CSNK2A1 IER3IP1 JRK GYS1 SCARB2 SLC25A15 NUS1 ND1 ND2 SLC22A5 ND3 ND4 ASPA ND5 ND6 CNTNAP2 TREM2 SMARCA2 CSTB EHMT1 RNR1 MPLKIP TRNF FTL SMS MFSD8 TRNH TRNI TRNK TRNL1 LNPK CERS1 TRNP ATP1A1 TRNQ ATP1A2 CTNND2 TRNS1 TRNS2 C9ORF72 TRNV SLC25A19 TRNW MAPK10 ALDH7A1 GABRA1 LGI1 SON PIGM
Seizures
Genes 1434
CLPP NHLRC1 GPHN TACO1 UBA5 CLN8 EPRS NAT8L AARS CTU2 ABAT GLRX5 ERCC1 ERCC2 AMER1 ERCC3 ERCC4 ERCC5 ERCC6 PIGP MANBA STUB1 ACADM STAG1 ACADS MAP1B ACADSB ACAT1 MAPT DNAJC19 USP9X SLC35C1 KDM5C ACO2 SMC1A ACOX1 RPS6KA3 BCKDK APC2 ACTA2 TMEM216 ACTB KATNB1 SLC6A19 MC1R ZFP57 MC2R NAA10 SAMD12 WDR81 ACTG1 TCIRG1 L2HGDH DHDDS LAGE3 LAMC3 RPS20 EXT2 RXYLT1 EXTL3 ACVR1 ADGRV1 ACVRL1 PCDH12 ACY1 MDH2 RREB1 ARID1A EZH2 TIMMDC1 ADAR TRDN IL17F ABCA7 MECP2 KLRC4 WARS2 MEF2C MEFV STX1B MEIS2 PHF21A RYR2 ADD3 TBC1D24 WAC SLC12A5 MEN1 SEMA3A ADK SHROOM4 BPTF TUBB3 TUBB4A ARID1B ADRA2B MGAT2 PANK2 FBP1 SARS NLGN4X ADSL MBTPS2 MGP SC5D COG6 ARHGAP31 FKTN STRADA AGA HECW2 SCN1A SCN1B PCDH19 SCN2A PGAP1 RNASEH2C SCN3A HACE1 MIPEP ARL13B SCN8A GPC4 SCN9A SCN10A KIAA1109 EMG1 MLH1 AHSG SCO1 CC2D2A ANTXR1 KMT2A FGF8 PLA2G6 AKT1 AKT2 FGF12 ALAD FGFR1 TOMM40 FGFR3 ABCD1 FGFR2 HAX1 PWAR1 TP53RK FAR1 PRKAG2 FH ALDH3A2 PIBF1 DOCK6 POMK ALDOB ZBTB18 KCNT1 SLC9A6 MOCS1 FOXG1 MOCS2 SEC23B SDHA SDHB SDHC SDHD ALPL MPL CUL4B TRAF7 DIP2B FLI1 FLII FLNA COG2 AMPD2 SET AMT FOXRED1 DEAF1 FMR1 ANK1 ANK3 OFD1 OSTM1 SLC25A4 CISD2 RNASEH2A CTC1 PTF1A NACC1 PUF60 FOLR1 SGSH UFC1 FLVCR1 PEX3 CEP290 CNTNAP1 ARX DOLK SLC35A1 SLC19A2 LARS KCNAB2 ARFGEF2 TMEM138 IKBKG SHH TRMT1 ELP1 PHF6 NTNG1 POMGNT1 RNF213 ICK UQCC2 FBXO11 NPC2 SPG11 CNKSR2 ARMC9 MSH2 CHD7 FASTKD2 ST3GAL3 ZSWIM6 FLVCR2 POMT1 TXNRD2 MTHFS CCDC115 OSGEP APP SIX3 NUBPL SKI PIGV FAS FASLG CCDC141 AQP2 WDR26 SLC1A2 SLC1A3 SLC1A4 CDK10 COA8 TDP2 ADAM22 UFM1 SLC2A1 CEP164 ARCN1 PEX26 ARF1 CYFIP2 COG8 SLC3A1 STAMBP TRAK1 DHX30 EPG5 CASK FAN1 MTFMT ARG1 SLC6A1 TPK1 SPTBN4 SLC6A8 MSX2 NBAS PACS1 ARHGDIA SETD2 LIPT1 NPRL2 RAB3GAP1 ARL3 RAB18 PIGT MLH3 NDUFAF4 RPIA PIEZO2 CCDC88A ARSA SLC25A12 STS ATP6 FAM111A SLC12A1 TRNC SLC12A3 FRA16E COX1 COX2 COX3 ARVCF KLF13 WDR11 SLC16A1 CYTB FEZF1 MTHFD1 ASAH1 FARS2 MTOR MTHFR ELMO2 SLC18A3 ASCL1 CDK13 SLC20A2 SLC25A1 OTUD6B ASL FRG1 JRK MTM1 KLHL15 ND1 ASNS ND2 SLC22A5 GNB5 ND3 XPNPEP3 EBP ND4 ASPA RNASET2 NAXD PPA2 ND5 ASS1 ND6 CLDN16 TIMM50 NUP133 ANKRD11 SMARCA2 MTR B9D1 RNR1 SMARCA4 SMARCB1 CNPY3 MAST1 FLCN MTRR SMARCC2 DNAJC5 MPC1 SMARCE1 TRNF C11ORF95 FTL NDUFAF6 ALDH4A1 SMS MFSD8 TRNH FUCA1 TRNI TRNK ATIC TRNL1 ATM NGLY1 SNAP25 RERE EIF3F TRNN CERS1 TRNP ATP1A1 TBR1 TRNQ ATP1A2 AP4B1 TBC1D23 ATP1A3 TRNS1 TRNS2 C9ORF72 OCLN TDP1 TRNT TRNV MBD5 FUT8 TRNW STX16 STX11 SUFU ERMARD FXYD2 ATP2A2 SPATA5 MCTP2 PRDM16 LMBRD1 PLK4 TRAPPC2L SNRPN STAG2 ATP5F1A MMUT MEGF10 UNC80 ALDH7A1 MVK RAI1 GABRA1 SON SORL1 PHACTR1 GABRB1 ATP5F1D GABRB2 SOX2 GABRB3 SOX3 GABRD SNORD115-1 SPATA7 SOX5 TRAF3IP2 GABRG2 SOX10 SOX11 ATP6V1A GAD1 MYH3 ATP6V1B2 VPS11 ATP6V1E1 CTSF GALC UPB1 EOGT ATP6AP1 NKX6-2 EMC1 ATP7A DIS3L2 ADAT3 SPAST GPAA1 WWOX ATR GAMT WDR4 ATRX CRADD KIF1A MYO5A AUH ERAP1 MYO9A SPR AVPR2 NEXMIF ATP8A2 TMEM165 ZNF423 INPP5K NADK2 SPTAN1 IQSEC2 GAS1 NAGA NAGLU HDAC8 ASH1L CPLX1 GATA3 GATA4 GATA6 FADD GBA PWRN1 CDH23 MPDZ FGFRL1 NFASC SIK1 GCDH BCKDHA BCKDHB SLC46A1 GCH1 NDN GCK NDP NDUFA1 POGZ NDUFA2 MCCC2 TNFRSF11A NDUFA4 COL25A1 SSR4 TUBGCP4 GCSH PDE10A PEX11B TUBA8 C12ORF57 NDUFA9 NDUFA10 SUCLG1 GDF2 ZC4H2 SUCLA2 COQ2 BCR ANKLE2 ADA2 GDI1 BCS1L NDUFB8 GDNF DPM1 GFAP NDUFS1 NDUFS2 CIC MMADHC DPM2 NDUFS3 STAR BDNF NDUFV1 NAGS HESX1 NDUFS4 SLC39A8 FGF17 NDUFS6 STAT3 STAT4 SNORD118 NDUFS8 NDUFV2 SYNGAP1 SLC52A3 ELOVL4 IFIH1 CDKL5 GJA1 BMP2 BMP4 NEK1 BMPR1A GK SRPX2 NEU1 NEUROD2 KISS1R NF1 STXBP1 GLA GPC3 NDUFA12 GLB1 TMTC3 BRAF SYNJ1 NF2 ST3GAL5 SUOX NFIA KLHL7 MLC1 GLDC GLE1 SQSTM1 BTD SGPL1 GLI2 GLI3 ABCC8 SURF1 PGAP2 GLRA1 RHOBTB2 SUMF1 GLRB NFKB2 EIF2B4 GLUD1 EIF2B3 BUB1 AFG3L2 VAMP1 EIF2B2 CYP26C1 BUB1B EIF2B5 FAM126A ARHGEF9 VPS13A GLUL PLCB1 SYN1 SMG9 SYP HYLS1 GM2A AP1S2 ACSF3 PACS2 LIPT2 IRF2BPL KIAA0556 CACNA1H C4A TRPV3 BCL10 TACR3 NIPA1 GNAO1 GNAQ TAF1 GNAS SEMA4A DENND5A HERC2 HERC1 CAMTA1 ROBO3 GNB1 FOXH1 GTPBP3 PHOX2B CLP1 GPT2 BRAT1 MAPRE2 NODAL MYRF NONO AP3D1 GNS PIGO TAT NOTCH1 TBX1 CNTN2 ALG1 NOTCH3 TBCD TBCE GP1BA GP1BB TBP SPINK5 CA8 GP9 NPC1 TLK2 NPHP1 CACNA1A RNU12 CACNA1C CACNA1D CACNA1E LIAS TCF4 NCAPD3 HNF1A HNF1B CACNB4 SATB2 SLC25A20 CUX2 CAD RPGRIP1L NRAS NEDD4L B4GAT1 MLX MID2 HTRA2 SZT2 PRICKLE1 CAMK2A CAMK2B HCN1 MYO1H NTRK2 PCLO HGSNAT SLC19A3 NSD1 CASP10 CRPPA GRIA3 CASQ2 GRIA4 CASR GRN GRIK2 IL17RC TDGF1 GRIN1 LMNB2 GRIN2A GRIN2B OCRL SYT2 AIP GRIN2D SIK3 GRM1 ADNP LARS2 ATP13A2 CIT CBS TSEN2 TFAP2A ANKH OPA1 OPHN1 POLR3A STT3B KRIT1 GSS MLYCD CRB1 KPTN CCND2 TGFB1 MMAA IL1RAPL1 TBX19 AP4E1 TGFBR2 GPR161 B9D2 TGFBR3 TGIF1 MSH6 COL18A1 MFSD2A WDR45 GTF2E2 OTC AP4S1 SLC35A3 KLLN OTX2 ERLIN2 THPO POMGNT2 LINGO1 ATAD1 ABCA5 SMC3 GUCY1A1 AIFM1 IL12A-AS1 NANS TK2 ASXL3 ETHE1 GYS1 SCARB2 GYS2 PPP1R15B MRAP GUCY2D PAFAH1B1 TGDS TLR4 PRDX1 PAH SLC6A5 TREM2 PAK1 CKAP2L PAK3 MACF1 PLPBP WDR73 ZFYVE26 SERAC1 HSD17B10 PAX2 HADHA HADHB HADH LNPK AP4M1 BUB3 POLG2 SLC25A19 KAT6B PDCD10 PC CDC42 PCCA PCCB CLCF1 NNT AGRN HCCS SLC33A1 HCFC1 CDH11 DISP1 PCK1 CDH15 MAN1B1 TP53 HTT ATP6V0A2 COX14 LGI1 CDK5 PCNT XPR1 PIGM RD3 LARGE1 HEXA PIGY PCSK1 PIGN SDHAF1 TMEM67 USP18 PCYT1A LRAT TREX1 ASXL1 RAB11B SCN11A HIC1 PNKP HIVEP2 PGAP3 PDE6D CRLF1 GCM2 HLA-B PDGFB TRIO MICOS13 CENPE AIMP1 PDGFRB PDHA1 HLA-DPA1 HLA-DPB1 AMACR GDF6 GLYCTK SLC5A7 HLCS PEX1 CLEC7A PEX6 PEX7 PEX10 ADGRG1 HMBS PEX12 PEX13 PEX14 CHAT TSC1 CHD1 TSC2 CHD2 HMGCL HMGCS2 CHKB CHN1 HNF4A TRIP13 TRIP12 LYST TTR ZNHIT3 PGK1 CHRNA2 TUBB2A CHRNA4 ALX4 CHRNA7 TUBG1 HNRNPH2 CHRNB2 TULP1 HNRNPU HIRA RNU4ATAC TWIST1 SNAP29 EFTUD2 PRUNE1 ERCC8 TYROBP HEPACAM KMT2C GUF1 ZDHHC15 LONP1 UBA1 UBE2A SERPINI1 PLAA CLCN2 PIGA CLCN4 PIGC KCNQ5 NALCN PIGH CLCNKB CLIC2 UBE3A HPD PIK3CA UBTF TPP1 PIK3R2 CLN3 DSTYK HS6ST1 CLN5 FRRS1L RAB3GAP2 UCP2 RECQL4 UFD1 SLC35A2 CLTC NPAP1 PEX16 HRAS ASPM AIPL1 GTF2H5 CRIPT GPSM2 PLAGL1 CCR1 IL17RA ATXN10 FLRT3 MTO1 FTO HSD17B4 MED17 PYCR2 PRMT7 TXN2 GMPPB GMPPA ALG6 PLP1 EIF2AK3 KDM6A NIPBL D2HGDH COG4 VARS NAXE VCP PMM2 VDR COL3A1 HSPD1 COL4A1 POMT2 PMS1 PROK2 KCTD7 COL4A2 NDUFB11 NDST1 TRAPPC11 VLDLR MICAL1 PIGL PSAT1 EXOSC9 PMS2 MAGEL2 COL13A1 NDUFAF5 COMT ARV1 NMNAT1 ADAMTS3 MBOAT7 DLL4 PMPCB FKRP WFS1 WHCR PODXL NSD2 NELFA POLA1 INPP5E IARS FA2H POLE RRM2B POLG MPDU1 B3GALNT2 RTTN NDUFAF3 COX6B1 POMC COX7B COX8A COX10 POU1F1 COX15 TWNK POU3F4 XK TSEN54 SAMHD1 XPA XPC SIN3A PLEKHG2 IDH2 CPOX CPS1 CPT1A IDS CPT2 GABBR2 GOSR2 CTSA LGI4 SP110 CREBBP YWHAE YWHAG PREPL SHANK3 SH2B1 TOE1 ALG2 MMACHC CRKL PPM1B NECAP1 NDUFA11 CHMP2B PPOX ZIC2 CRX UGT1A1 TUBGCP6 TMEM106B PPP2CA PPP2R1A TRMT10A GTPBP2 BCL11B PPP2R5D PPP3CA NSMF KANSL1 KCNT2 SEC24C CYP2R1 PPT1 ISG15 ZNF592 PRF1 PDP1 CSNK2A1 NUS1 SETBP1 IQCB1 TBCK RBPJ CNTNAP2 CEP41 DOCK7 GEMIN4 CSTB MPLKIP PIGW FMN2 SLC13A5 PRKCD CTBP1 PNPLA8 DEPDC5 CTH CTLA4 PRKDC SELENOI MAPK1 CTNNB1 SLC45A1 CTNND2 PUM1 MAPK10 MAP2K1 IL17RD CTSD GFM1 CEP57 RUBCN PRNP ADAMTSL2 PROC CRB2 PRODH PROP1 PRPS1 TRPM6 MKRN3 IL10 CEP104 COX20 IL12A IL12B TCTN3 IFT140 IBA57 KIF1BP RELN TRIT1 CNNM2 HTRA1 AHI1 NDUFS7 ZBTB20 SAMD9 PRTN3 PSAP FRMPD4 IMPDH1 HDAC4 PSEN1 PSEN2 NDE1 TMEM237 EARS2 TMEM94 PET100 INS CYP27A1 RNF113A CYP27B1 KIAA0586 INSR PSMB8 PDX1 DAG1 IPW KIF4A FTSJ1 PTPN22 TUBB2B DBH UPF3B PSMD12 NHLRC2 PIGG MCCC1 PSPH DBT DCC PTCH1 PTEN BCOR METTL23 DNAJC6 NSUN2 DCX NEK9 DDB2 PTH ITGB6 ZEB2 MRPS22 DDOST PHGDH SNORD116-1 MFF DDX3X STT3A MKS1 ITPA KIAA0753 FBXL4 TBC1D20 NSDHL IVD JAK2 ANOS1 PRDM8 CCM2 ARL6IP6 EFHC1 KCNA1 ADPRHL2 KCNA2 CEP120 LMAN2L RNF125 ALMS1 KCNB1 MOGS KCNC1 HIBCH PROKR2 CLPB KCNC3 COQ8A TUBA1A TECPR2 FIG4 KCNH1 CXCR4 PTS KCNJ1 KCNJ6 DGUOK DHCR7 PURA DHCR24 KCNJ10 DHFR KCNJ11 TMEM70 KCNJ13 COQ9 NECTIN1 ARNT2 PEX19 DIAPH1 KCNMA1 PEX2 PEX5 CLN6 ALDH18A1 KCNQ2 DLD KCNQ3 DLG3 RARS2 MAFB RBM8A KIF2A KIF5A KIF5C RAB39B RFT1 SLC52A2 SARDH RMND1 TMEM231 DNM1 CARS2 CPLANE1 QARS QDPR HYMAI ALDH5A1 TSEN15 MED12 DNASE1L3 TRAPPC9 RAB27A TCTN1 DYNC1H1 IL23R JAM3 WDR62 RAC1 KIF11 CDON DNMT3A RAD21 RNASEH2B KRAS DPAGT1 SLC12A6 CPA6 RPGRIP1 LCA5 SCO2 DPYD DPYS RANBP2 AKT3 FAT4 RAP1A PDSS2 RAP1B EPM2A B3GLCT ROGDI ISCA1 RARS LHX4 AIMP2 ATN1 MCPH1 NUP107 GNE NDUFAF2 COG7 PIGS DUSP6 L1CAM TPRKB KAT6A COQ6 EXOSC3 DYRK1A LAMA2 FARSB LAMB1 RDH12 DNM1L ABCC9 ALG11 GJC2 RELA VARS2 DPF2 ANO10 LBR HUWE1 RET COLGALT1 PRRT2 ECE1 DLL1 CCNQ PQBP1 ECHS1 ECM1 COL4A3BP BOLA3 TBL1XR1 JMJD1C LETM1 NARS2 PDHX EDN3 TSFM KIF7 PNPO MKRN3-AS1 EEF1A2 ESCO2 SLC25A22 NDUFA13 SLC17A5 LHX1 CCDC88C SNIP1 GAL RASGRP1 LIG4 ANGPTL6 SNX14 LRPPRC SEPSECS KMT2D BCAP31 AAAS TRNT1 EGF LMNA KMT5B TRAPPC12 MYH14 SETD5 ZDHHC9 ATAD3A AASS COQ4 CCBE1 EIF2B1 ATP6AP2 EIF2S3 ARID2 IER3IP1 ALG9 SLC25A15 AP3B2 SPRY4 MED25 NPRL3 LRP2 EHMT1 SASS6 ROBO1 UBAC2 CAMKMT RORA ALG3 BSCL2 ASXL2 EML1 TANGO2 LAS1L ENG EPCAM RPE65 CSPP1 VPS53 CD96 EP300 CRBN VPS13B RPL10 SMAD4 TCTN2 ALG13 MAF NIN