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 NGS Panels for Epilepsy Genetic Testing


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Epilepsy is one of the most common neurological disorders and affects people independent from its age. Epilepsy is characterized by seizure disorders.
Causes for seizures in epilepsy are often unknown in some cases they are caused by brain injury or genetic predispositions. There are different syndromes described that are associated with certain genetic disorders. 

Mutations in different genes are well described to be associated with the occurrence of epilepsy. Examples of genes that are associated with epilepsy are genes of ion channels and neurotransmitter receptors (KCNQ2, SCN1A, GABRA1, GRIN2A), chromatin remodeling (CHD2), intracellular signaling (SYNGAP1, TBC1D24), Synaptic vesicle cycle (STXBP1), mTOR signaling (DEPDC5), and genes of other functions (PURA, WWOX) (Myers and  Mefford 2015). Copy number variations are also described to be associated with the occurrence of childhood epilepsies (Myers and Mefford 2015).

On this website different NGS targeted gene panels are introduced that are recommended by the provider for testing different epilepsy syndromes or for comprehensive epilepsy genetics testing. The number of targeted genes vary from only a few up to almost 500 genes. For more detailed information on the targeted genes please contact the corresponding test provider. 

For more general information on epilepsy we recommend the Epilepsy Foundation website.


Epilepsy NGS Panels

Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS)

Multi Gene Panel (4 Genes)
Targeted genes: KCNQ2 KCNQ3 PRRT2 SCN2A
Source: Medical Genetics Center

Childhood-Onset Epilepsy Panel

Targeted genes: ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, WDR45, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Alpers syndrome (Alpers-Huttenlocher syndrome)
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Creatine Deficiency Syndromes
Epilepsy and Mental Retardation Limited to Females
Epilepsy with Variable Learning and Behavioral Disorders
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Partial Epilepsy with Auditory Features, Autosomal Dominant
Progressive Myoclonic Epilepsy
Rett syndrome

Source: GeneDx

Comprehensive Epilepsy Panel

Targeted genes: ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Alpers syndrome (Alpers-Huttenlocher syndrome)
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Creatine Deficiency Syndromes
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Epilepsy and Mental Retardation Limited to Females
Epilepsy with Variable Learning and Behavioral Disorders
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Lafora Disease
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Ohtahara Syndrome
Partial Epilepsy with Auditory Features, Autosomal Dominant
Progressive Myoclonic Epilepsy
Pyridoxine Dependent Seizures
Rett syndrome
Unverricht-Lundborg Disease (Baltic Myoclonus)
West Syndrome

Source: GeneDx

Courtagen’s epiSEEK® Comprehensive Sequence Analysis test

Courtagen’s epiSEEK® Comprehensive Sequence Analysis test provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 471 genes associated with epileptic and seizure disorder phenotypes. The updated panel includes several recently published genes. Multiple categories of disorders from earlier panel designs were expanded, including inborn errors of metabolism, congenital disorders of glycosylation, peroxisomal biogenesis disorders, seizures related to intellectual disability, and drug metabolism (cytochrome P450 genes and genes in the cannabinoid and cannabadiol pathways).
Source: Courtagen

Website

Dravet syndrome panel

Targeted genes: SCN1A, GABRG2, SCN2A, SCN9A

Source: Centogene

Early infantile epileptic encephalopathy (NGS panel)

Targeted genes (26): ARHGEF9, ARX, CDKL5, DNM1, DOCK7, GABRA1, GNAO1, GRIN2B, HCN1, KCNB1, KCNQ2, KCNT1, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC13A5, SLC25A22, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX

Source: CGC Genetics

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (EIEE) PANEL

Targeted Genes
ALDH7A1 ARFGEF2 ARGGEF15 ARHGEF9 ARX CDKL5 CHD2 CLCN4 EEF1A2 EFHC1 GNAO1 GRIN2A KCNH5 KCNQ2 KCNT1 PCDH19 PLCB1 PNKP PNPO POLG SCN1A SCN2A SCN8A SLC25A22 SLC2A1 SPTAN1 ST3GAL3 ST3GAL5 STXBP1 SZT2

Disorders
Early infantile epileptic encephalopathy
Epilepsy

Source: UCGS

Early infantile epileptic encephalopathy panel

Targeted genes: ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1

Source: Centogene

Epilepsy

Multi Gene Panel (212 Genes)
Targeted genes: ALDH7A1 AMACR ARHGEF15 ARHGEF9 ARX ASAH1 ATP13A2 ATP1A2 C19orf12 CACNA1A CACNA1H CACNB4 CASR CDKL5 CHD2 CHD8 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DEPDC5 DOCK7 DPAGT1 DPM2 DYRK1A EARS2 EEF1A2 EFHC1 EIF2AK3 EIF2B3 EPM2A ETFA ETFB ETFDH ETHE1 FA2H FAM126A FARS2 FASTKD2 FBXL4 FLAD1 FOLR1 FOXG1 FOXRED1 FTL GABRA1 GABRD GABRG2 GAMT GFAP GFER GFM1 GLDC GMPPB GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 LRPPRC LYRM7 MARS2 MBD5 MECP2 MEF2C MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP MYBPC1 NDUFA1 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NFU1 NHLRC1 NOL3 NPC1 NPC2 NUBPL OPA1 PANK2 PC PCDH19 PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PHGDH PLA2G6 PLCB1 PLP1 PNKP PNPO PNPT1 POLG POLR3A POLR3B PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 PTCD1 PUS1 QARS RARS2 RMND1 RRM2B SARS2 SCARB2 SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SGCE SLC19A2 SLC19A3 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC2A1 SLC33A1 SLC6A8 SPG7 SPTAN1 STX1B STXBP1 SUCLA2 SUCLG1 SURF1 SYNE1 SYNGAP1 SYNJ1 TACO1 TARS2 TAZ TBC1D24 TIMM8A TK2 TMEM70 TPK1 TPP1 TRIT1 TRMU TSFM TTC19 TUBB2A TUBB4A TUFM TYMP UBE3A UQCRB UQCRC2 UQCRQ VARS2 WDR45 WFS1 YARS2
Source: Medical Genetics Center

Epilepsy (absence) in childhood panel

Targeted genes: CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1

Source: Centogene

Epilepsy and Hypomyelination

Multi Gene Panel (8 Genes)
Targeted genes: EIF2B3 FAM126A FOLR1 PLP1 POLR3A POLR3B SPTAN1 TUBB4A
Source: Medical Genetics Center

Epilepsy and Mitochondrial Encephalopathy

Multi Gene Panel (186 Genes)
Targeted genes: ALDH7A1 ARHGEF15 ARHGEF9 ARX ASAH1 C19orf12 CDKL5 CHD2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DOCK7 DPAGT1 DPM2 EARS2 EEF1A2 EFHC1 EIF2AK3 EPM2A ETFA ETFB ETFDH ETHE1 FA2H FARS2 FASTKD2 FBXL4 FLAD1 FOLR1 FOXG1 FOXRED1 GABRA1 GABRD GABRG2 GAMT GFAP GFER GFM1 GLDC GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 LRPPRC LYRM7 MARS2 MBD5 MECP2 MEF2C MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP NDUFA1 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NFU1 NHLRC1 NPC1 NPC2 NUBPL OPA1 PANK2 PC PCDH19 PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PHGDH PLCB1 PNKP PNPO PNPT1 POLG PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 PTCD1 PUS1 QARS RARS2 RMND1 RRM2B SARS2 SCARB2 SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SGCE SLC19A2 SLC19A3 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC2A1 SLC33A1 SLC6A8 SPG7 SPTAN1 STXBP1 SUCLA2 SUCLG1 SURF1 SYNE1 SYNGAP1 SYNJ1 TACO1 TARS2 TAZ TBC1D24 TIMM8A TK2 TMEM70 TPK1 TPP1 TRIT1 TRMU TSFM TTC19 TUBB2A TUFM TYMP UBE3A UQCRB UQCRC2 UQCRQ VARS2 WDR45 WFS1 YARS2
Source: Medical Genetics Center

Epilepsy (generalized) with febrile seizures panel

Targeted genes: GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A

Source: Centogene

Epilepsy NGS Panel

Targeted Genes: (343) ABAT, ABCB1, ABCC8, ACY1, ADCK3, ADGRG1, ADGRV1, ADSL, AGA, AHI1, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, APTX, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASPA, ASPM, ATIC, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATPAF2, ATR, ATRX, B4GALT1, BCS1L, BRAF, BTD, BUB1B, C12orf65, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CBL, CC2D2A, CCL2, CDK5RAP2, CDKL5, CDON, CELSR1, CENPJ, CEP152, CEP290, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COG1, COG7, COG8, COL18A1, COL4A1, COQ2, COQ9, COX15, CPT2, CSTB, CTSA, CTSD, CUL4B, DCX, DLD, DOLK, DPAGT1, DPM1, DPM3, DPYD, EFHC1, EFHC2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFA, ETFB, ETFDH, FGD1, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FUCA1, GABRA1, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GUSB, HCN1, HCN4, HEXA, HEXB, HGSNAT, HPD, HRAS, HSD17B10, IDS, IDUA, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNV2, KCTD7, KDM5C, KIAA1279, KMT2D, KRAS, L2HGDH, LAMA2, LARGE, LBR, LGI1, LIG4, LRPPRC, MAGI2, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, MECP2, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, NAGLU, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NHEJ1, NHLRC1, NIPBL, NODAL, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PDSS1, PDSS2, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHF6, PIGV, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PTCH1, PTPN11, QDPR, RAB39B, RAB3GAP1, RAF1, RAI1, RARS2, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIX3, SLC17A5, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35C1, SLC46A1, SLC6A5, SLC9A6, SMC1A, SMC3, SMPD1, SMS, SNAP29, SOS1, SPRED1, SPTAN1, SRPX2, STIL, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TACO1, TBC1D24, TBX1, TCF4, TGIF1, TMEM216, TMEM67, TMEM70, TPP1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, UBE3A, VANGL1, VPS13A, VPS13B, VRK1, WDR62, ZEB2, ZIC2
Source: Fulgent Diagnostics

Epilepsy (partial) hereditary panel

Targeted genes: CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MT-ATP6, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2

Source: Centogene

Epileptic encephalopathy

Targeted genes: ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CHD2, CNTNAP2, CPT2, DNM1, DOCK7, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GCSH, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, KCNB1, KCNJ10, KCNQ2, KCNT1, MAGI2, MAPK10, MBD5, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRGAP2, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TREX1, UBE3A, WWOX, ZEB2

Source: CGC Genetics

Epileptic Encephalopathy

Multi Gene Panel (89 Genes)
Targeted genes: ALDH7A1 AMACR ARHGEF15 ARHGEF9 ARX ASAH1 ATP13A2 C19orf12 CDKL5 CHD2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DOCK7 DPM2 EEF1A2 EFHC1 EPM2A FA2H FOLR1 FOXG1 FTL GABRA1 GABRD GABRG2 GAMT GFAP GLDC GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 MBD5 MECP2 MEF2C NEU1 NHLRC1 NPC1 NPC2 PANK2 PCDH19 PHGDH PLA2G6 PLCB1 PNKP PNPO POLG PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 QARS SCARB2 SCN1A SCN1B SCN2A SCN8A SGCE SLC25A22 SLC2A1 SPTAN1 STX1B STXBP1 SYNE1 SYNGAP1 SYNJ1 TBC1D24 TPP1 TUBB2A UBE3A WDR45
Source: Medical Genetics Center

Epileptic encephalopathy panel

Targeted genes: ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2

Source: Centogene

EPINEXT

EpiNext is our broad, comprehensive epilepsy panel that includes 100 genes known to cause a variety of epilepsies. EpiNext is an appropriate reflex option following any EpiFirst test, allowing for targeted testing of the most relevant genes prior to a broader testing approach. In cases with an unclear history or atypical presentation, EpiNext may be considered an appropriate first-tier test.

Source: Ambry Genetics
Targeted genes: ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

Familial Focal Epilepsy

Multi Gene Panel (6 Genes)
Targeted genes: CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1 LGI1
Source: Medical Genetics Center

Febrile Seizures

Multi Gene Panel (8 Genes)
Targeted genes: GABRA1 GABRD HCN1 PCDH19 SCN1A SCN1B SCN2A STX1B
Source: Medical Genetics Center

Infantile Epilepsy Panel

Infantile Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 53 Genes
Test includes: ADSL, ALDH7A1, ARX, ATP6AP2, CDKL5, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GRIN2A, GRIN2B, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAG12, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, ZEB2
Source: Arup Laboratories

Infantile Epilepsy Panel

Targeted genes: ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Creatine Deficiency Syndromes
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Infantile Spasm Syndrome-2, X-linked
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Ohtahara Syndrome
Pyridoxine Dependent Seizures
Rett syndrome
West Syndrome

Source: GeneDx

Invitae Epilepsy Panel

The Invitae Epilepsy Panel analyzes up to 103 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy.
Source: Invitae

Myoclonic epilepsy panel

Targeted genes: ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1, EPM2A, GABRA1, GABRD, GLDC, GOSR2, NEU1, NHLRC1, NOL3, POLG, PRICKLE1, PRICKLE2, SCARB2, SGCE

Source: Centogene

Nocturnal frontal lobe epilepsy (NGS panel)

Targeted genes: CHRNB2, CHRNA2, KCNT1, CHRNA4

Source: CGC Genetics

Progressive Myoclonic Epilepsy

Multi Gene Panel (31 Genes)
Targeted genes: ASAH1 CACNB4 CASR CLN3 CLN5 CLN6 CSTB EFHC1 EPM2A FOLR1 GABRA1 GABRD GLDC GOSR2 HEXA HEXB KCNC1 KCTD7 MYBPC1 NEU1 NHLRC1 NOL3 NPC1 NPC2 POLG PPT1 PRICKLE1 PRICKLE2 SCARB2 SGCE TPP1
Source: Medical Genetics Center

Progressive Myoclonic Epilepsy Panel

Targeted genes: CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1 (CLN2)

Disorders:
Lafora Disease
Neuronal Ceroid Lipofuscinoses (NCL)
Progressive Myoclonic Epilepsy
Unverricht-Lundborg Disease (Baltic Myoclonus)

Source: GeneDx

STAT Epilepsy Panel

Targeted genes: ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SPTAN1, STXBP1, TSC1, TSC2

Disorders:
Alpers syndrome (Alpers-Huttenlocher syndrome)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Epilepsy and Mental Retardation Limited to Females
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Ohtahara Syndrome
Progressive Myoclonic Epilepsy
Pyridoxine Dependent Seizures
Rett syndrome
West Syndrome

Source: GeneDx


Candace T. Myers and Heather C. Mefford (2015) Advancing epilepsy genetics in the genomic era |PubMed|


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