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| Indikation |
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| Material | |
| Klinische Fragestellung | Enzephalopathie, epileptisch |
| Gene | AARS1 ABAT ACTL6B ADAM22 ADAR ADARB1 ADPRS ADSL ALDH7A1 ALG13 AMT AP2M1 AP3B2 ARFGEF2 ARHGEF15 ARHGEF9 ARV1 ARX ASNS ATP1A2 ATP1A3 ATP6V1A BRAT1 CACNA1A CACNA1B CACNA1E CACNA2D2 CAD CASK CDK19 CDKL5 CELF2 CHD2 CLCN4 CLTC CNKSR2 CNPY3 CNTNAP2 COA8 COX6B1 CPLX1 CPT2 CUX2 CYFIP2 D2HGDH DALRD3 DCX DENND5A DMXL2 DNM1 DNM1L DOCK7 DYRK1A ECHS1 EEF1A2 EFHC1 ETHE1 FAR1 FARS2 FBXO28 FGF12 FGF13 FLNA FOXG1 FRRS1L GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GAD1 GAMT GLDC GLS GNAO1 GNB5 GOT2 GPHN GRIN1 GRIN2A GRIN2B GRIN2D GTPBP3 GUF1 HCN1 HECW2 HEPACAM HIBCH HNRNPU HTT ITPA KCNA2 KCNB1 KCNC2 KCNH5 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KCTD3 KIF1A LRPPRC LYRM7 MAGI2 MBD5 MDH1 MDH2 MECP2 MED17 MEF2C MOCS1 MRPL44 MTFMT MTHFR NACC1 NDUFAF6 NDUFS2 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NECAP1 NEUROD2 NPRL3 NRXN1 NSF NTRK2 NUBPL PACS2 PARS2 PCDH19 PHACTR1 PIGA PIGB PIGN PIGP PIGQ PIGS PLAA PLCB1 PLPBP PNKP PNPO POLG PPP3CA PRRT2 PTPN23 PURA RALGAPA1 RHOBTB2 RMND1 RNASEH2A RNASEH2B RNF13 ROGDI SAMHD1 SCN1A SCN1B SCN2A SCN3A SCN8A SCO1 SDHAF1 SERAC1 SETD1A SIK1 SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC38A3 SLC6A8 SLC9A6 SMC1A SNAP25 SPTAN1 ST3GAL3 ST3GAL5 STXBP1 SYN1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCD TBCE TBCK TCF4 TIMM50 TRAK1 TREX1 TRIM8 TSC1 TSC2 TTC19 UBA5 UBE3A UGDH UGP2 UNC80 VARS1 WARS2 WDR45 WWOX YWHAG ZEB2 |
| Methode | Next Generation Sequencing, NGS |