SCO2

Epileptische Enzephalopathie, erweiterte Diagnostik

AARS, ACY1, ADAR, ADSL, ALDH7A1, ALG13, AMACR, AMT, ARHGEF15, ARHGEF9, ASAH1, ATP13A2, ATP1A2, BRAT1, C10orf2/TWNK, C19orf12, CACNA1A, CASK, CHD2, CHD8, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, CP, CPT2, CSTB, DCAF17, DCX, DNM1, DOCK7, DPM2, DYRK1A, EARS2, EEF1A2, EFHC1, EIF2B3, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FASN, FASTKD2, FBXL4, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GFAP, GFER, GFM1, GLDC, GLUL, GMPPB, GNAO1, GOSR2, GPHN, GPR98, GRIN1, GRIN2A, GRIN2B, HADH, HCN1, HCN2, HDAC4, HEXA, HEXB, HNRNPH1, HNRNPU, IBA57, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH5, KCNQ3, KCNT1, KCTD7, LRPPRC, LYRM7, MARS2, MBD5, MEF2C, MICU1, MOCS1, MOCS2, MPV17, MRPS16, MRPS22, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NFU1, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, NUBPL, OPA1, PANK2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PHGDH, PIGA, PIK3AP1, PLA2G6, PLCB1, PLP1, PNKP, PNPO, PNPT1, POLG, POLR3A, POLR3B, PPT1, PPT2, PRICKLE1, PRICKLE2, PRRT2, PTCD1, PUS1, QARS, RANBP2, RANGAP1, RARS2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RRM2B, RYR3, SAMHD1, SARS2, SCARB2, SCN1B, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SEZ6, SGCE, SIK1, SLC13A5, SLC19A2, SLC19A3, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A2, SLC6A8, SLC9A6, SPG7, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TARS2, TAZ, TBC1D24, TCF4, TIMM8A, TK2, TMEM70, TNK2, TPK1, TPP1, TREX1, TRMU, TSC1, TSC2, TSFM, TTC19, TUBB2A, TUFM, TYMP, UBE3A, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, WWOX, YARS2, ZEB2

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