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Epilepsien

Benigne familiäre neonatale und infantile Epilepsie ID 003.02

Benigne familiäre neonatale und infantile Epilepsie, ID 003.02 (5 Gene)

SCN2A
SCN8A
PRRT2
KCNQ2
KCNQ3
Enzephalopathien (mitochondrial/epileptisch) ID 265.04

Enzephalopathien (mitochondrial/epileptisch), ID 265.04 (464 Gene)

RNU4-2
BCS1L
RYR1
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC17A5
SLC19A2
SLC1A4
SLC20A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A1
SLC6A8
SIK1
SOX10
SPG7
SPTAN1
STAT2
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TALDO1
TAFAZZIN
TBCD
TBCE
TWNK
ACO2
TIMM8A
TK2
ACOX1
TREX1
TSFM
TUBB2A
TUFM
UBE3A
UBTF
UQCRB
UQCRC2
WFS1
XRCC4
MCOLN1
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CAD
PCDH19
SLC25A19
MRPS7
ACTG2
MRPS22
NPC2
ARHGEF9
VPS11
GTPBP3
CASR
MICU1
GPHN
PUS1
CHCHD10
NBAS
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
SAMHD1
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
SCARB2
MRPL44
MCEE
COQ8A
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
AFG2A
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
COQ8B
CHAT
PSAT1
CHD2
DOCK7
MTO1
NKX6-2
MMAB
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
SLC25A22
CHD8
POLR1C
CLCN4
COQ6
NUBPL
TRIT1
PRICKLE2
NDUFA11
NDUFB11
SUMF1
MBD5
COA8
L2HGDH
SLC25A26
TPP1
CLN3
CLN5
CLN6
TUBB3
TUBB4A
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
NHLRC1
VARS2
RNASET2
AGK
KCTD7
COL4A1
COL4A2
COLQ
COQ7
ADAR
COX10
COX15
COX6B1
GMPPB
COX8A
CP
PEX26
PDSS2
SLC13A5
TRMT5
UNC13A
ALG2
PNPT1
CPT1A
ETHE1
CPT2
VPS13D
NDUFA12
RNASEH2C
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
MMACHC
HYCC1
FLAD1
CSTB
NPRL2
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
VAC14
ANO10
MTPAP
DARS2
RNASEH2B
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
NARS2
HEPACAM
NADK2
DOK7
MTRFR
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
WDR45
EMC1
DLAT
DLD
SZT2
FASTKD2
TBC1D24
EPG5
DNA2
EARS2
NEXMIF
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PREPL
PNPO
PYCR2
POLR3B
PRRT2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GALC
GAMT
GARS1
GBE1
GCDH
GFAP
GFER
GFPT1
GJA1
GLDC
GLUD1
GM2A
GNAO1
GNB1
GOSR2
AMACR
GPR88
GRIK2
GRIN2A
GRIN2D
HADH
ABCB7
HARS2
HCFC1
HCN1
HEXA
HEXB
HIBCH
HNRNPDL
HNRNPU
HSD17B4
HSPD1
ABCD1
KARS1
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS1
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11
ASAH1
MTHFR
MTM1
MUSK
MMUT
MYBPC1
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEDD4L
NEU1
NOL3
NPC1
ATP1A2
ATP1A3
OPA1
OPA3
ATP5F1A
ATP5F1E
OTC
PABPN1
PC
PCCA
PCCB
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ACADM
AUH
PHGDH
ACADS
PLA2G6
PLP1
PNKP
POLG
POLG2
ACADVL
PDP1
PPT1
DNAJC3
LONP1
PSAP
SLC33A1
PURA
PEX19
PEX2
PEX5
QARS1
RANBP2
RAPSN
RARS1
RELN
Epilepsie - Gesamtpanel ID 085.07

Epilepsie - Gesamtpanel, ID 085.07 (273 Gene)

SCN1A
SCN1B
SCN2A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC19A2
SLC1A4
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A8
SIK1
SPG7
SPTAN1
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TAFAZZIN
TIMM8A
TK2
TSFM
TUBB2A
TUFM
UBE3A
UQCRB
UQCRC2
WFS1
MCOLN1
FBXL4
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CERS1
PCDH19
IRF2BPL
SLC25A19
MRPS22
NPC2
ARHGEF9
VPS11
CASR
MICU1
GPHN
PUS1
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
DNAJC5
SLC19A3
NFU1
EFHC1
SCARB2
MCEE
STAMBP
CLP1
PRICKLE1
EXOSC8
SYNE1
RRM2B
TPK1
GJC2
SARS2
PDSS1
ARX
PRIMA1
DEPDC5
STX1B
KCNT1
MMAA
PSAT1
CHD2
DOCK7
MTO1
MMAB
CHRNA2
CHRNA4
CHRNB2
SLC25A22
AARS1
CHD8
POLR1C
CLCN4
NUBPL
TRIT1
PRICKLE2
MBD5
TPP1
CLN3
CLN5
CLN6
TUBB4A
CLN8
NDUFAF4
NUS1
SERAC1
FARS2
RMND1
FA2H
PDHX
RARS2
NHLRC1
VARS2
KCTD7
COL4A1
COL4A2
GMPPB
CP
PDSS2
SLC13A5
ALG10
PNPT1
ETHE1
NDUFA12
YARS2
TACO1
MMACHC
HYCC1
FLAD1
CSTB
NPRL2
MARS2
CTSF
C19orf12
TRMU
MTPAP
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
TMEM70
FOXRED1
IBA57
LYRM7
NDUFAF2
MFSD8
NDUFAF6
WDR45
FASTKD2
TBC1D24
EARS2
NEXMIF
UQCRQ
MTFMT
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PNPO
PYCR2
ATN1
POLR3B
PRRT2
TARS2
DYRK1A
TYMP
EEF1A2
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
FTL
GABRA1
GABRD
GABRG2
GAMT
GCDH
GFAP
GFER
GLDC
GOSR2
AMACR
GRIK2
GRIN2A
GRN
HADH
HCFC1
HCN1
HEXA
HEXB
HNRNPDL
HNRNPU
HSPD1
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
LGI1
ARG1
LMNB2
MECP2
MEF2C
MOCS1
MOCS2
MPV17
MRE11
ASAH1
MTHFR
MMUT
MYBPC1
NDUFA1
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEU1
NOL3
NOTCH3
NPC1
ATP1A2
OPA1
OTC
PC
PCCA
PCCB
ALDH7A1
PDHA1
PDHB
PHGDH
PLA2G6
PLP1
PNKP
POLG
PDP1
PPT1
SLC33A1
QARS1
RANBP2
RARS1
RELN
Frühkindliche Epilepsie - Basisdiagnostik ID 243.00

Frühkindliche Epilepsie - Basisdiagnostik, ID 243.00 (8 Gene)

SCN1A
SLC2A1
CDKL5
STXBP1
FOLR1
KCNQ2
ALDH7A1
POLG
GLUT1-Defizienz I SLC2A1 ID 965.00

GLUT1-Defizienz I SLC2A1, ID 965.00 (1 Gene)

SLC2A1
Nächtliche Frontallappenepilepsie ID 740.00

Nächtliche Frontallappenepilepsie, ID 740.00 (8 Gene)

NPRL3
PRIMA1
DEPDC5
KCNT1
CHRNA2
CHRNA4
CHRNB2
PRRT2
Neugeborenenkrämpfe - Basisdiagnostik ID 242.00

Neugeborenenkrämpfe - Basisdiagnostik, ID 242.00 (10 Gene)

SCN1A
SLC2A1
CDKL5
STXBP1
ARX
PNPO
FOLR1
GABRA1
KCNQ2
ALDH7A1
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