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| Indikation |
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| Material | |
| Klinische Fragestellung | Epilepsie |
| Gene | ADSL ALDH5A1 ALDH7A1 ALG13 ARG1 ARHGEF9 ARID1B ARX ASNS ATP1A2 ATP1A3 ATP6AP2 ATRX BRAT1 C12orf57 CACNA1A CACNA1E CACNA1G CASK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLN8 CNTNAP2 CREBBP CSTB CTNNB1 CTSD CTSF CUL4B DCX DDX3X DEPDC5 DNAJC5 DNM1 DOCK7 DYRK1A EEF1A2 EHMT1 EPM2A EPRS1 FGF12 FLNA FOLR1 FOXG1 FRRS1L GABBR2 GABRA1 GABRB2 GABRB3 GABRG2 GAMT GATM GLDC GNAO1 GOSR2 GRIN1 GRIN2A GRIN2B HCN1 HNRNPU IQSEC2 KANSL1 KCNA2 KCNB1 KCNC1 KCNH1 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM6A LGI1 MAGI2 MBD5 MECP2 MEF2C MFSD8 NALCN NEXMIF NGLY1 NHLRC1 NPRL3 NR2F1 NRXN1 OPHN1 PACS1 PAFAH1B1 PCDH19 PHF6 PHGDH PIGA PIGG PIGN PIGO PIGT PIGV PLCB1 PNKP PNPO POLG PPP2R5D PPT1 PRICKLE1 PRRT2 PURA SATB2 SCARB2 SCN1A SCN1B SCN2A SCN8A SHANK3 SLC13A5 SLC19A3 SLC25A22 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SLC9A6 SMARCA2 SMC1A SNAP25 SPATA5 SPTAN1 STX1B STXBP1 SYNGAP1 SZT2 TBC1D24 TBL1XR1 TCF4 TPP1 TSC1 TSC2 TUBB2A UBE3A WDR45 WWOX ZEB2 |
| Methode | Next Generation Sequencing, NGS |