Gen-Panel
Metabolische Epilepsien: ID303.01, 84 Gene
ABAT,
ACY1,
ADSL,
ALDH4A1,
ALDH5A1,
ALDH7A1,
AMT,
ARG1,
ATIC,
ATP7A,
BCKDHA,
BCKDHB,
BCKDK,
BTD,
CLN3,
CLN5,
CLN6,
CLN8,
CNNM2,
CPS1,
CTSD,
CTSF,
D2HGDH,
DBT,
DHFR,
DLD,
DNAJC5,
DPYD,
ETFA,
ETFB,
ETFDH,
ETHE1,
FH,
FOLR1,
GAMT,
GATM,
GCDH,
GCH1,
GCSH,
GLDC,
GLUL,
GM2A,
GPHN,
GRN,
HEXA,
HEXB,
HIBCH,
HLCS,
IDH2,
IVD,
KCTD7,
L2HGDH,
LIAS,
MDH2,
MFSD8,
MOCS1,
MOCS2,
MTHFR,
NEU1,
OTC,
PAH,
PC,
PCBD1,
PCCA,
PCCB,
PGK1,
PHGDH,
PLPBP,
PNPO,
POLG,
PPM1K,
PPT1,
PRODH,
PTS,
QDPR,
SLC2A1,
SLC6A8,
SLC6A9,
SLC19A3,
SLC25A1,
SLC46A1,
SUOX,
TPK1,
TPP1
Inkludierte Phänotypen
2-Hydroxy-Glutarazidurie: 4 Gene
D2HGDH,
IDH2,
L2HGDH,
SLC25A1
Ahornsirupkrankheit (MSUD): 5 Gene
BCKDHA,
BCKDHB,
DBT,
DLD,
PPM1K
Glycin-Enzephalopathie (GCE): 5 Gene
AMT,
GCSH,
GLDC,
LIAS,
SLC6A9
GM2-Gangliosidose: 3 Gene
GM2A,
HEXA,
HEXB
Molybdän-Cofaktor-Defizienz (MOCOD): 3 Gene
GPHN,
MOCS1,
MOCS2
Neuronale Ceroid-Lipofuszinose (CLN): 12 Gene
CLN3,
CLN5,
CLN6,
CLN8,
CTSD,
CTSF,
DNAJC5,
GRN,
KCTD7,
MFSD8,
PPT1,
TPP1
Zerebrales Kreatinmangelsyndrom (CCDS): 3 Gene
GAMT,
GATM,
SLC6A8
HPO Terms
Epileptic seizures, Infantile spasms, Refractory epilepsy, Status epilepticus, Neonatal seizures, Developmental delay, Hyperammonemia, Elevated lactate, Hypoglycemia, Hyperglycinemia, Elevated BCAAs, Metabolic disorder, Metabolic encephalopathy, Seizure cluster, Seizure disorder, Early infantile onset, Seizure onset in infancy, Recurrent seizures, Seizure onset in early childhood, Seizure onset in childhood
