Epilepsie & Stoffwechsel

Die CeGaT hat zusammen mit Dr. Johannes Lemke, Universität Bern, Dr. Thomas Dorn, Schweizerisches Epilepsie Zentrum Zürich, und den Arbeitsgruppen um Prof. Holger Lerche und Prof. Ingeborg Krägeloh-Mann, Universität Tübingen, 20 Epilepsie- und Stoffwechsel Panels für die gleichzeitige Untersuchung von bis zu 327 Genen entwickelt.

Die Sequenzierung aller unten angegebenen Gene erfolgt mittels Next-Generation-Sequencing auf den SOLiD Systemen. Die so erhaltenen Daten werden je nach Fragestellung ausgewertet. Alle gefundenen Sequenz-Varianten werden auf dem Kapillar-Sequenzierer validiert.

Für diagnostische Fragestellungen kann jedes der 20 CeGaT-Panels einzeln oder auch in Kombination mit anderen Panels angefordert werden. Der Preis ist ahängig von der Anzahl der angeforderten Gene und wird Ihnen auf Anfrage gern mitgeteilt. Eine Deletionsanalyse ist im Preis nicht enthalten; diese kann zusätzlich angefordert werden.

Hier finden Sie das Einsendeformular.

Panel 1: Generalized / Myoclonic Epilepsy, Febrile Seizures, Absences (36 Gene)

  • ALDH7A1
  • BRD2
  • CACNA1A
  • CACNA1H
  • CACNB4
  • CASR
  • CHRNA2
  • CHRNA4
  • CHRNB2
  • CLCN2
  • CSTB
  • EFHC1
  • EPM2A
  • GABRA1
  • GABRB3
  • GABRD
  • GABRG2
  • GPR98
  • GRIN2A
  • GRIN2B
  • KCNMA1
  • KCNQ2
  • KCNQ3
  • KCTD7
  • ME2
  • NHLRC1
  • PCDH19
  • PRICKLE1
  • PRICKLE2
  • SCARB2
  • SCN1A
  • SCN1B
  • SCN2A
  • SCN9A
  • SLC2A1
  • TBC1D24

Panel 2: Epileptic Encephalopathies (30 Gene)

  • ARHGEF9 [Early Infantile Epileptic Encephalopathy]  
  • ARX [Early Infantile Epileptic Encephalopathy]
  • CDKL5 [Early Infantile Epileptic Encephalopathy]
  • CNTNAP2 [Pitt Hopkins Syndrome]
  • FOXG1 [Rett Syndrome]
  • GABRG2 [Early Infantile Epileptic Encephalopathy]
  • GRIN2A [Early Infantile Epileptic Encephalopathy]
  • GRIN2B [Early Infantile Epileptic Encephalopathy]
  • MAPK10 [Lennox Gastaut Syndrome]
  • MECP2 [Rett Syndrome]
  • NRXN1 [Pitt Hopkins Syndrome]
  • PCDH19 [Early Infantile Epileptic Encephalopathy]
  • PNKP [Early Infantile Epileptic Encephalopathy]
  • RNASEH2A [Aicardi-Goutieres Syndrome]  
  • RNASEH2B [Aicardi-Goutieres Syndrome]
  • RNASEH2C [Aicardi-Goutieres Syndrome]
  • SAMHD1 [Aicardi-Goutieres Syndrome]
  • SCN1A [Early Infantile Epileptic Encephalopathy]
  • SCN1B [Early Infantile Epileptic Encephalopathy]  
  • SCN2A [Early Infantile Epileptic Encephalopathy]
  • SCN9A [Early Infantile Epileptic Encephalopathy]
  • SLC2A1  [GLUT1 Deficiency Syndrome]  
  • SLC25A22 [Early Infantile Epileptic Encephalopathy]
  • SLC9A6 [Angelman Syndrome]
  • SPTAN1 [Early Infantile Epileptic Encephalopathy]
  • STXBP1 [Early Infantile Epileptic Encephalopathy]
  • TCF4 [Pitt Hopkins Syndrome]
  • TREX1 [Aicardi-Goutieres Syndrome]
  • UBE3A [Angelman Syndrome]
  • ZEB2  [Mowat-Wilson Syndrome]  

Panel 3: Epilepsy and X-linked Mental Retardation (25 Gene)

  • ARHGEF9 [Early Infantile Epileptic Encephalopathy]
  • ARX [Early Infantile Epileptic Encephalopathy]
  • ATP6AP2 [Epilepsy with XLMR]
  • ATRX [Epilepsy with XLMR]
  • CASK [Mental Retardation and Microcephaly]
  • CDKL5 [Early Infantile Epileptic Encephalopathy]
  • CUL4B [Epilepsy with XLMR]
  • CXORF5 [Simpson-Golabi-Behmel Syndrome]
  • DCX [Lissencephaly]
  • FGD1 [Aarskog Scott Syndrome]
  • GPC3 [Simpson-Golabi-Behmel Syndrome] 
  • GRIA3 [Epilepsy with XLMR]
  • HSD17B10 [Epilepsy with XLMR]  
  • JARID1C [Epilepsy with XLMR]
  • OPHN1 [Epilepsy with XLMR]
  • PAK3 [Epilepsy with XLMR]
  • PHF6 [Boerjeson Forsmann Lehmann Syndrome]
  • PLP1 [Pelizaeus-Merzbacher Disease]
  • PQBP1 [Epilepsy with XLMR]
  • RAB39B [Epilepsy with XLMR]
  • SLC9A6 [Angelman-Like Syndrome]
  • SMC1A [Cornelia De Lange Syndrome]
  • SMS [Epilepsy with XLMR]
  • SRPX2 [Rolandic Epilepsy]
  • SYP [Epilepsy with XLMR]

Panel 4: CDG (Congenital Disorder of Glycosylation) Syndrome (23 Gene)

  • ALG1
  • ALG2
  • ALG3
  • ALG6
  • ALG8
  • ALG9
  • ALG12
  • B4GALT1
  • COG1
  • COG7
  • COG8
  • DPAGT1
  • DPM1
  • DPM3
  • GCS1
  • MGAT2
  • MPDU1
  • MPI
  • PMM2
  • RFT1
  • SLC35A1
  • SLC35C1
  • TMEM15

Panel 5: Ceroidlipofuscinosis (8 Gene)

  • CLN3
  • CLN5
  • CLN6
  • CLN8
  • CTSD
  • MFSD8
  • PPT1
  • TPP1

Panel 6: Coenzyme Q Deficiency Syndrome (5 Gene)

  • APTX
  • CABC1
  • COQ9
  • PDSS1
  • PDSS2

Panel 7: Joubert Syndrome (10 Gene)

  • AHI1
  • ARL13B
  • CC2D2A
  • CEP290
  • INPP5E
  • NPHP1
  • OFD1
  • RPGRIP1L
  • TMEM67
  • TMEM216

Panel 8: Selected Mitochondrial Disorders (35 nuclear encoded Genes)

  • APTX [Coenzyme Q10 Deficiency]
  • ATPAF2 [ATPase Deficiency]
  • BCS1L [Leigh Syndrome]
  • C12ORF65 [Leigh Syndrome]
  • C8ORF38 [Leigh Syndrome]
  • CABC1 [Coenzyme Q10 Deficiency]
  • COQ2 [Coenzyme Q10 Deficiency]
  • COQ9 [Coenzyme Q10 Deficiency]  
  • COX10 [Leigh Syndrome]
  • COX15 [Leigh Syndrome]
  • DLD [Leigh Syndrome]
  • GCSH [Glycine Encephalopathy]
  • GCST [Glycine Encephalopathy]
  • GLDC [Glycine Encephalopathy]
  • HSD17B10 [HSD17B10 Deficiency]
  • LRPPRC [Leigh Syndrome]
  • NDUFA2 [Leigh Syndrome]
  • NDUFS1 [Leigh Syndrome]
  • NDUFS3 [Leigh Syndrome]
  • NDUFS4 [Leigh Syndrome]
  • NDUFS7 [Leigh Syndrome]
  • NDUFS8 [Leigh Syndrome]
  • NDUFV1 [Leigh Syndrome]
  • PC [Leigh Syndrome]
  • PDHA1 [Leigh Syndrome]
  • PDSS1 [Coenzyme Q10 Deficiency]
  • PDSS2 [Coenzyme Q10 Deficiency]
  • POLG [Mitochondrial DNA Depletion Syndrome]
  • RARS2 [Pontocerebellar Hypoplasia]
  • SCO2 [Leigh Syndrome]
  • SDHA [Leigh Syndrome]
  • SURF1 [Leigh Syndrome]
  • TACO1 [Leigh Syndrome]
  • TMEM70 [Encephalocardiomyopathy]
  • VDAC1 [VDAC Deficiency]

Panel 9: Lissencephaly and Polymicrogyria (18 Gene)

  • COL18A1 [Polymicrogyria]
  • CPT2 [Polymicrogyria]
  • DCX [Lissencephaly]
  • EOMES [Polymicrogyria]
  • FGFR3 [Polymicrogyria]
  • FLNA [Periventricular Heterotopia]
  • GPR56 [Polymicrogyria]
  • PAFAH1B1 [Lissencephaly]
  • PAX6 [Polymicrogyria]
  • PEX7 [Polymicrogyria]
  • RAB3GAP1 [Warburg Micro Syndrome]
  • RELN [Lissencephaly]
  • SNAP29 [Cerebral Dysgenesis]
  • SRPX2 [Rolandic Epilepsy]
  • TUBA1A [Lissencephaly]
  • TUBA8 [Polymicrogyria]
  • TUBB2B [Polymicrogyria]
  • VDAC1 [Polymicrogyria]

Panel 10: Severe Microcephaly and Pontocerebellar Hypoplasia (22 Gene)

  • ASPM [Microcephaly]
  • ATR [Microcephaly]
  • BUB1B [Microcephaly]
  • CASK [Microcephaly]
  • CDK5RAP2 [Microcephaly]
  • CENPJ [Microcephaly]
  • CEP152 [Microcephaly]  
  • LIG4 [Microcephaly]
  • MCPH1 [Microcephaly]
  • MED17 [Microcephaly]
  • NHEJ1 [Microcephaly]
  • PCNT [Microcephalic Osteodysplastic Primordial Dwarfism]
  • PNKP [Microcephaly]
  • PQBP1 [X-linked Mental Retardation]
  • RARS2 [Pontocerebellar Hypoplasia]  
  • SLC25A19 [Microcephaly]
  • STIL [Microcephaly]
  • TSEN2 [Pontocerebellar Hypoplasia]
  • TSEN34 [Pontocerebellar Hypoplasia]
  • TSEN54 [Pontocerebellar Hypoplasia]
  • VRK1 [Pontocerebellar Hypoplasia]
  • WDR62 [Microcephaly, Cortical Malformations and Mental Retardation]  

Panel 11: MPS and Mucolipidosis (15 Gene)

  • ARSB
  • GALNS
  • GLB1
  • GNPTAB
  • GNPTG
  • GNS
  • GUSB
  • HGSNAT
  • HYAL1
  • IDS
  • IDUA
  • MCOLN1
  • NAGLU
  • SGSH
  • SUMF1

Panel 12: Disorders of the Ras-MAPK Pathway (14 Gene)

  • BRAF
  • CBL
  • HRAS
  • KRAS
  • MAP2K1
  • MAP2K2
  • MYSD4
  • NF1
  • NRAS
  • PTPN11
  • RAF1
  • SHOC2
  • SOS1
  • SPRED1

Panel 13: Walker-Warburg Syndrome (6 Gene)

  • FKRP
  • FKTN
  • LARGE
  • POMGNT1
  • POMT1
  • POMT2

Panel 14: Disorders of Peroxisome Biogenesis (9 Gene)

  • PEX1
  • PEX2
  • PEX3
  • PEX5
  • PEX6
  • PEX7
  • PEX12
  • PEX14
  • PEX26

Panel 15: Metabolic Disorders (49 Gene)

  • ABCC8 [Hypoglycemia]
  • ACY1 [Aminoacylase1 Deficiency]
  • ADSL [Adenylosuccinase Deficiency]
  • AGA [Aspartylglucosaminuria]
  • ALDH4A1 [Hyperprolinemia]
  • ALDH5A1 [Succinic Semialdehyde Dehydrogenase Deficiency]
  • ALDH7A1 [Pyridoxine Deficiency]
  • ARG1 [Argininemia]
  • ARSA [Metachromatic Leucodystrophy]
  • ASPA [Canavan Disease]
  • ATIC [ATIC Deficiency]
  • BTD [Biotinidase Deficiency]
  • CPT2 [Carnitine Palmitoyltransferase II Deficiency]
  • CTSA [Galactosialidosis]
  • DPYD [Dihydropyrimidine Dehydrogenase Deficiency]
  • ETFA [Glutaraciduria]
  • ETFB [Glutaraciduria]
  • ETFDH [Glutaraciduria]
  • FH [Fumarase Deficiency]
  • FOLR1 [Cerebral folate transport Deficiency]
  • FUCA1 [Fucosidosis]
  • GALC [Krabbe Disease]
  • GAMT [GAMT Deficiency]
  • GCDH [Glutaraciduria]
  • GCSH [Glycine Encephalopathy]
  • GCST [Glycine Encephalopathy]  
  • GLB1 [Gangliosidosis]
  • GLDC [Glycine Encephalopathy] 
  • GNE [Sialuria]
  • HEXA [Gangliosidosis]
  • HEXB [Gangliosidosis]
  • HPD [Tyrosinemia]
  • L2HGDH [L-2-Hydroxyglutaric Aciduria]
  • LAMA2 [Muscular Dystrophy]
  • MOCS1 [Molybdene Cofactor Deficiency]
  • MOCS2 [Molybdene Cofactor Deficiency]
  • NEU1 [Neuroamidase Deficiency]
  • NPC1 [Niemann Pick Disease]
  • NPC2 [Niemann Pick Disease]
  • PGK1 [GAMT Deficiency]
  • PRODH [Hyperprolinemia]
  • PSAP [Krabbe Disease]
  • QDPR [Hyperphenylalaninemia]
  • SLC17A5 [Sialuria]
  • SLC25A15 [Orinithine Translocase Deficiency]
  • SLC46A1 [Folate Malabsorption]
  • SMPD1 [Niemann Pick Disease]
  • SUMF1 [Sulfatidosis]
  • SUOX [Sulfitoxidasis]

 Panel 16: Leukodystrophies (20 Gene)

  • ARSA
  • ASPA
  • EIF2B1
  • EIF2B2
  • EIF2B3
  • EIF2B4
  • EIF2B5
  • GALC
  • GFAP
  • MLC1
  • NOTCH3
  • PLP1
  • PSAP
  • RNASEH2A
  • RNASEH2B  
  • RNASEH2C  
  • SAMHD1
  • SDHA
  • SUMF1
  • TREX1

Panel 17: Migraine (6 Gene)

  • ATP1A2
  • CACNA1A
  • NOTCH3
  • POLG
  • SCN1A
  • SLC2A1

Panel 18: Hyperekplexia (5 Gene)

  • ARHGEF9
  • GLRA1
  • GLRB
  • GPHN
  • SLC6A5

Panel 19: Holoprosencephaly (8 Gene)

  • FGF8
  • GLI2
  • GLI3
  • PTCH1
  • SHH
  • SIX3
  • TGIF
  • ZIC2

Panel 20: Neuronal Migration Disorders (31 Gene)

  • ARFGEF2
  • ARX
  • COL18A1
  • COL4A1
  • CPT2
  • DCX
  • EMX2
  • EOMES
  • FGFR3
  • FKRP
  • FKTN
  • FLNA
  • GPR56
  • LAMA2
  • LARGE
  • PAFAH1B1
  • PAX6
  • PEX7
  • POMGNT1
  • POMT1
  • POMT2
  • PQBP1
  • RAB3GAP
  • RELN
  • SNAP29
  • SRPX2
  • TUBA1A
  • TUBA8
  • TUBB2B
  • VDAC1
  • WDR62

 

 

Other Syndromal Disorders with Epilepsy (Gene können auch separat angefordert werden)

  • ARFGEF2 [Periventricular Heterotopia]
  • ARHGEF9 [Hyperekplexia with Epilepsy]
  • A2BP1 [Mental Retardation and Epilepsy]  
  • ASPA [Canavan Syndrome]
  • ATP1A2 [Familial Hemiplegic Migraine]
  • ATP2A2 [Darier-White Syndrome]
  • ATP6V0A2 [Cutis laxa with Epilepsy and Mental Retardation]
  • CACNA1A [Familial Hemiplegic Migraine]
  • CCDC88C [Hydrocephalus with Medial Diverticulum]
  • CLCNKA [Bartter Syndrome]
  • CLCNKB [Bartter Syndrome]  
  • COH1 [Cohen Syndrome]
  • DLGAP2 [Progressive Epilepsy with Mental Retardation]
  • GFAP [Alexander Disease]
  • GLI3 [Pallister Hall Syndrome]
  • GLRA1 [Hyperekplexia]
  • GLRB [Hyperekplexia]
  • GPHN [Hyperekplexia]
  • KCNA1 [Episodic Ataxia]
  • KCNJ1 [Bartter Syndrome]
  • KCNJ10 [Seizures, Sensoryneural Deafness, Ataxia, Metal retardation]  
  • KIAA1279 [Goldberg-Shprintzen]
  • LAMA2 [Merosine Deficiency]
  • LBR [Pelger-Huet Syndrome]
  • LGI1 [Autosomal Dominant Lateral Temporal Lobe Epilepsy]
  • MLC1 [Megalencephalic Leucencephalopathy with Cysts]
  • MLL2 [Kabuki Syndrome]
  • NF1 [Neurofibromatosis]
  • NIPBL [Cornelia de Lange Syndrome]
  • PANK2 [NBIA, Neurodegeneration with Brain Iron Accumulation]
  • PI12 [Encephalopathy with Neuroserpin Inclusion Bodies]
  • PIGV [Hyperphosphatasia with Mental Retardation]
  • PLA2G6 [Infantile Neuroaxonale Dystrophy]
  • RAI1 [Smith Magenis Syndrome]
  • SCN8A [Cerebellar Atrophy, Ataxia, and Mental Retardation] 
  • SETBP1 [Schincel-Giedion Midface Retraction Syndrome]
  • SHH [Holoprosencephaly]
  • SLC4A10 [Epilepsy with Mental Retardation]
  • SLC6A5 [Hyperekplexia]
  • SMC1A [Cornelia de Lange Syndrome]
  • SMC3 [Cornelia de Lange Syndrome]
  • SYNGAP1 [Epilepsy and Mental Retardation]
  • TBX1 [Di George Syndrome]
  • TSC1 [Tuberous Sclerosis]
  • TSC2 [Tuberous Sclerosis]
  • VPS13A [Neuroacanthocytosis]
  • ZEB2 [Mowat Wilson Syndrome]

Falls Sie Interesse an der Sequenzierung eines einzelnen Gens haben, besuchen Sie bitte den Bereich DNA-Diagnostik; dort finden Sie unsere aktuelle Genliste, ein Anforderungsformular und weitere Informationen zur Überweisung und Abrechnung gesetzlich und privat versicherter Patienten.