Epilepsy metabolic, NGS
Detect genetic mutations causing metabolic epilepsy; targeted therapeutic strategies.
Genelist (116): ACO2, ALDH4A1, ALDH5A1, ALDH7A1, AP4M1, APTX, ARG1, ARSA, ASAH1, ASL, ASNS, ATAD1, ASPA, ASS1, ATP6AP1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, C19orf12, CA5A, CAD, CASR, CBS, CLN6, CLPB, CNNM2, COASY, COQ4, COQ8A, COQ9, D2HGDH, DCAF17, DPYD, FA2H, FAM111A, FXYD2, GTPBP2, IDS, IDUA, IVD, KCNA1, KCNJ10, KIF1A, L2HGDH, LIPA, MAN2B1, MCCC1, MCCC2, MOCS1, MOCS2, MPV17, MTHFR, MTR, MTRR, NAGLU, NGLY1, NPC1, OAT, OTC, PAH, PANK2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PLA2G6, PNPO, POLG, PPT1, PRPS1, PSPH, PTS, QDPR, SCP2, SGSH, SLC12A1, SLC12A3, SLC19A3, SLC22A5, SLC1A3, SLC25A1, SLC25A12, SLC25A19, SLC2A1, SLC33A1, SLC39A8, SLC46A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SPR, SUCLA2, SUCLG1, SUOX, TH, TWNK
Featured Review
Detect genetic mutations causing metabolic epilepsy; targeted therapeutic strategies.
Genelist (116): ACO2, ALDH4A1, ALDH5A1, ALDH7A1, AP4M1, APTX, ARG1, ARSA, ASAH1, ASL, ASNS, ATAD1, ASPA, ASS1, ATP6AP1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, C19orf12, CA5A, CAD, CASR, CBS, CLN6, CLPB, CNNM2, COASY, COQ4, COQ8A, COQ9, D2HGDH, DCAF17, DPYD, FA2H, FAM111A, FXYD2, GTPBP2, IDS, IDUA, IVD, KCNA1, KCNJ10, KIF1A, L2HGDH, LIPA, MAN2B1, MCCC1, MCCC2, MOCS1, MOCS2, MPV17, MTHFR, MTR, MTRR, NAGLU, NGLY1, NPC1, OAT, OTC, PAH, PANK2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PLA2G6, PNPO, POLG, PPT1, PRPS1, PSPH, PTS, QDPR, SCP2, SGSH, SLC12A1, SLC12A3, SLC19A3, SLC22A5, SLC1A3, SLC25A1, SLC25A12, SLC25A19, SLC2A1, SLC33A1, SLC39A8, SLC46A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SPR, SUCLA2, SUCLG1, SUOX, TH, TWNK