Gen-Panel
Entwicklungsbedingte und epileptische Enzephalopathie (DEE, EIEE): ID080.03, 105 Gene
AARS1,
ACTL6B,
ADAM22,
ALG13,
AP3B2,
ARHGEF9,
ARV1,
ARX,
ATP1A2,
ATP1A3,
ATP6V0A1,
ATP6V1A,
CACNA1A,
CACNA1E,
CAD,
CDK19,
CDKL5,
CELF2,
CHD2,
CNPY3,
CPLX1,
CUX2,
CYFIP2,
DALRD3,
DENND5A,
DMXL2,
DNM1,
DOCK7,
EEF1A2,
FBXO28,
FGF12,
FGF13,
FRRS1L,
GABBR2,
GABRA1,
GABRA2,
GABRA5,
GABRB1,
GABRB2,
GABRB3,
GABRG2,
GAD1,
GLS,
GNAO1,
GOT2,
GRIN1,
GRIN2B,
GRIN2D,
GUF1,
HCN1,
HID1,
HNRNPU,
ITPA,
KCNA2,
KCNB1,
KCNC2,
KCNQ2,
KCNT1,
KCNT2,
MDH1,
MDH2,
NECAP1,
NEUROD2,
NSF,
NTRK2,
PACS2,
PARS2,
PCDH19,
PHACTR1,
PIGA,
PIGB,
PIGP,
PIGQ,
PIGS,
PLCB1,
PNKP,
PPP3CA,
RHOBTB2,
RNF13,
SCN1A,
SCN1B,
SCN2A,
SCN3A,
SCN8A,
SIK1,
SLC1A2,
SLC12A5,
SLC13A5,
SLC25A12,
SLC25A22,
SLC35A2,
SLC38A3,
SMC1A,
SPTAN1,
ST3GAL3,
STXBP1,
SYNJ1,
SZT2,
TBC1D24,
TRAK1,
UBA5,
UGDH,
UGP2,
WWOX,
YWHAG
Inkludierte Phänotypen
Entwicklungsbedingte und epileptische Enzephalopathie (DEE, EIEE), autosomal-dominant: 51 Gene
ATP1A2,
ATP1A3,
ATP6V0A1,
ATP6V1A,
CACNA1A,
CACNA1E,
CDK19,
CELF2,
CHD2,
CUX2,
CYFIP2,
DNM1,
EEF1A2,
FBXO28,
FGF12,
GABBR2,
GABRA1,
GABRA2,
GABRA5,
GABRB1,
GABRB2,
GABRB3,
GABRG2,
GNAO1,
GRIN2B,
GRIN2D,
HCN1,
HNRNPU,
KCNA2,
KCNB1,
KCNC2,
KCNQ2,
KCNT1,
KCNT2,
NEUROD2,
NSF,
NTRK2,
PACS2,
PHACTR1,
PPP3CA,
RHOBTB2,
RNF13,
SCN1A,
SCN2A,
SCN3A,
SCN8A,
SIK1,
SLC1A2,
SPTAN1,
STXBP1,
YWHAG
Entwicklungsbedingte und epileptische Enzephalopathie (DEE, EIEE), autosomal-rezessiv: 45 Gene
AARS1,
ACTL6B,
ADAM22,
AP3B2,
ARV1,
CAD,
CNPY3,
CPLX1,
DALRD3,
DENND5A,
DMXL2,
DOCK7,
FRRS1L,
GAD1,
GLS,
GOT2,
GRIN1,
GUF1,
HID1,
ITPA,
MDH1,
MDH2,
NECAP1,
PARS2,
PIGB,
PIGP,
PIGQ,
PIGS,
PLCB1,
PNKP,
SCN1B,
SLC12A5,
SLC13A5,
SLC25A12,
SLC25A22,
SLC38A3,
ST3GAL3,
SYNJ1,
SZT2,
TBC1D24,
TRAK1,
UBA5,
UGDH,
UGP2,
WWOX
Entwicklungsbedingte und epileptische Enzephalopathie (DEE, EIEE), X-chromosomal: 9 Gene
ALG13,
ARHGEF9,
ARX,
CDKL5,
FGF13,
PCDH19,
PIGA,
SLC35A2,
SMC1A
HPO Terms
Developmental delay, Seizure, Global developmental delay, Intellectual disability, Epileptic encephalopathy, Microcephaly, Hypotonia, Hypertonia, Status epilepticus, Abnormal brain MRI, Cerebral atrophy, Hypomyelination, Severe intellectual disability, Autism spectrum disorder, Infantile spasms, Photosensitive seizures, Cortical dysplasia, Seizure cluster, Brain structural anomaly, Seizure semiology: focal impaired awareness
