Тест 47.
Епилептични енцефалопатии

Мутации в 616 гени асоциирани с епилептични енцефалопатии


ERCC6, ERCC8, ESCO2, FAM126A, FGFR2, FTO, GJA1, GNAS, HACE1, HAX1, HESX1, IFIH1, KANSL1, KCNJ10, KIAA0226, KIF7, KMT2D, L1CAM, LAMA2, LBR, LMNB2, LYST, MAN2B1, MAP2K1, MAP2K2, MCPH1, MRPS22, MSX2, NAGLU, NDE1, NDUFA1, NGF, NTNG1, OCLN, OPA1, PCNT, PDE10A, PIGV, PIK3CA, POGZ, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, RAB3GAP2, RAI1, SACS, SDHA, SHANK3, SHH, SIL1, SIX3, SKI, SLC16A1, SLC17A5, SLC25A19, SLC33A1, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNRPN, SOX10, SOX2, SPAST, SPG11, ST3GAL3, STIL, STRADA, SUCLG1, SURF1, SYNGAP1, TBCE, TBL1XR1, TMEM165, TMEM67, TMEM70, TRAPPC9, TREX1, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB3, TUFM, UBE3A, UNC80, VPS13B, WDR62, WFS1, ZBTB18, ZEB2, ZNF41, AARS, AARS2, ACAD9, ACTB, ACTG1, ACY1, ADAR, ADORA2A, ADSL, AFG3L2, AIMP1, AKT2, ALDH7A1, ALG13, ALG9, ANK3, AP4B1, AP4E1, AP4M1, ARFGEF2, ARSA, ASAH1, ASNS, ASPA, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP7B, ATXN10, B3GNT1, BOLA3, BRAT1, C12ORF57, CACNA1A, CACNA1D, CACNA2D1, CAMTA1, CASK, CCBE1, CCDC88C, CCM2, CHD2, CHD8, CHRNA7, CLDN16, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNR2, CNTNAP2, COA5, COG1, COG5, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, COX10, COX14, COX15, COX6B1, CP, CPS1, CPT1A, CPT2, CSTB, CTC1, CTSD, D2HGDH, DBT, DCAF17, DCX, DHFR, DLGAP2, DNAJC5, DNM1, DOCK6, DOCK8, DPM1, DPM3, DPYS, DYNC1H1, DYRK1A, EARS2, ECM1, EFHC1, EFHC2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ENG, EPM2A, FA2H, FADD, FARS2, FGFR1, FKTN, FLNA, FMN2, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, GABRA1, GABRA5, GABRB3, GABRG2, GABRR2, GALC, GAMT, GBA, GCSH, GFAP, GFM1, GJC2, GLDC, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GOSR2, GPHN, GPR56, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HADH, HCN1, HDAC4, HEPACAM, HEXA, HEXB, HNRNPU, HSPD1, HTRA1, IER3IP1, ITPA, JAM3, KCNJ1, KCTD7, KRIT1, LAMB1, LAMC3, MAGI2, MAPK10, MBD5, MBTPS2, MECP2, MED17, MEF2C, MFSD2A, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MPDZ, MTRR, MYO5A, NAGA, NDST1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NEU1, NHLRC1, NPC1, NPC2, NRXN1, NUBPL, PAFAH1B1, PAH, PANK2, PC, PDCD10, PDGFB, PDHX, PDP1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PSAT1, PSPH, RAB18, RAB27A, RAB39B, RAB3GAP1, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RRM2B, SAMHD1, SCN1B, SCN2A, SCN8A, SCN9A, SDHAF1, SEPSECS, SERPINI1, SETD2, SGSH, SLC12A6, SLC20A2, SLC25A12, SLC25A22, SLC35A1, SLC35C1, SLC6A1, SLC9A6, SNIP1, SPTAN1, SRGAP2, STXBP1, STXBP2, SUCLA2, SYN1, TACO1, TBC1D24, TBX1, TCF4, TOR1A, TPK1, TPP1, TREM2, TTR, TUBA8, TUBB2B, TYROBP, UBR1, UNC13D, VPS13A, VRK1, WDR45, WDR81, WWOX, CREBBP, PRICKLE1, PEX7, PIGL, AARS1, ABAT, ABCC8, ABCD1, ABCD3, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ADA, ADAM22, ADAMTSL2, ADGRG1, ADPRHL2, AGA, AGK, AGPS, AIFM1, ALDH3A2, ALDH5A1, ALDOB, ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, AMT, ANTXR2, AP2M1, AP3B1, AP3B2, AP4S1, APOPT1, APP, APTX, ARG1, ARHGEF9, ARSB, ARV1, ARX, ASL, ASS1, ATM, ATP6V0A2, ATP6V1A, ATP7A, ATPAF2, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BTD, C12orf65, C19orf12, CA5A, CACNA1B, CACNA1E, CACNA1H, CACNA1I, CACNB4, CAV1, CDKL5, CERS1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLDN19, CLPP, CLTC, CNKSR2, CNPY3, COA8, COASY, COG4, COG6, COL11A2, COL2A1, COQ8A, COX20, CPA6, CPLX1, CSF1R, CTNS, CTSA, CTSC, CTSF, CTSK, CUX2, CYFIP2, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DDOST, DENND5A, DEPDC5, DGUOK, DHCR7, DHDDS, DKC1, DLAT, DLD, DNM1L, DOCK7, DOLK, DPAGT1, DPM2, DPYD, DYM, ECHS1, EEF1A2, EGF, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FAH, FAR1, FASTKD2, FBN1, FBXL4, FGF12, FH, FHL1, FRRS1L, FXYD2, GAA, GABBR2, GABRB1, GABRB2, GABRD, GALNS, GALT, GAN, GBE1, GCDH, GFER, GFM2, GFPT1, GJB1, GLA, GLB1, GLS, GMPPA, GNAO1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GRIN2D, GTPBP3, GUF1, GUSB, HADHA, HADHB, HCFC1, HECW2, HGSNAT, HIBCH, HLCS, HMGCL, HMGCS2, HRAS, HSD17B4, HTT, HYAL1, IARS2, IBA57, IDS, IDUA, IQSEC2, ISCA2, IVD, JAG1, KAT5, KCNA1, KCNA2, KCNB1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KIF1A, KIF5A, L2HGDH, LAMP2, LARGE1, LDB3, LGI1, LIAS, LIPA, LIPT1, LMNB1, LRPPRC, LYRM7, MAGT1, MAN1B1, MANBA, MARS2, MCCC1, MCCC2, MCOLN1, MDH2, MFN2, MGME1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOGS, MPDU1, MPI, MPV17, MRPL44, MTFMT, MTHFR, MTOR, MTR, MYOT, NACC1, NAGS, NARS2, NBAS, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEUROD2, NFU1, NGLY1, NOTCH3, NPRL3, NTRK2, OAT, OCRL, OGDHL, OPA3, OTC, PACS2, PARS2, PCCA, PCCB, PCDH19, PDHA1, PDHB, PDSS1, PDSS2, PET100, PEX1, PEX3, PEX5, PEX6, PGK1, PGM1, PHACTR1, PHYH, PIGA, PIGB, PIGO, PIGP, PIGQ, PIGS, PLA2G6, PLAA, PLCB1, PLCG2, PLP1, PMM2, PNKP, PNPO, PNPT1, PPP3CA, PPT1, PRODH, PROSC, PRRT2, PSAP, PSEN1, PTPN23, PTS, PURA, PYCR2, QARS1, QDPR, RARS1, RARS2, RBFOX1, RHOBTB2, RMND1, RPIA, SCARB2, SCN1A, SCN3A, SCO1, SCO2, SDHB, SDHD, SEC23B, SERAC1, SGCE, SIK1, SLC12A3, SLC12A5, SLC13A5, SLC16A2, SLC19A3, SLC1A2, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC35A2, SLC6A8, SLC7A7, SMPD1, SNAP25, SNTA1, SPART, SPATA5, SPG7, SRD5A3, SSR4, ST3GAL5, STAT1, STT3A, STT3B, STX1B, SUMF1, SUOX, SYNE1, SYNJ1, SZT2, TBCD, TBCK, TGFB1, TIMM8A, TINF2, TK2, TMEM126A, TRAK1, TRIM8, TRPM6, TRPV4, TSC1, TSC2, TSFM, TTC19, TTC5, TUBB4A, TUSC3, TWNK, TYMP, UBA5, UMPS, UQCRQ, VARS, WARS2, YWHAG, ZFYVE26
Срок за изпълнение:
50 работни дни