Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1

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Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). Genetic Heterogeneity of Familial Focal Epilepsy With Variable FociSee also FFEVF2 (OMIM ), caused by mutation in the NPRL2 gene (OMIM ) on chromosome 3p21, FFEVF3 (OMIM ), caused by mutation in the NPRL3 gene (OMIM ) on chromosome 16p13, and FFEVF4 (OMIM ), caused by mutation in the SCN3A gene (OMIM ) on chromosome 2q24.

Genes related to Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1

DEPDC5

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Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1

Intellectual disability
Seizures
Global developmental delay
Autism
Autistic behavior
Generalized tonic-clonic seizures
Focal-onset seizure
Psychosis
Heterotopia
Obsessive-compulsive behavior

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1 Is also known as epilepsy, familial focal, with variable foci, ffevf, fpevf, epilepsy, partial, with variable foci.

Researches and researchers

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Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...) View the complete list with 64 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR, ALG9, SLC19A3, EFHC1, LIAS, SCARB2, HCN4, BCKDK, PRICKLE1, CPA6, PRIMA1, DEPDC5, STX1B, KCNT1, ASPM, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, PRICKLE2, MBD5, L2HGDH, NHLRC1, BRAT1, KCTD7, ABAT, PIGO, CRH, CSTB, CYP27A1, ADSL, TBC1D24, DYNC1H1, PNPO, PRRT2, ALG13, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, ALPL, GOSR2, GRIN2A, GRIN2B, AMT, HCN1, KCNC1, KCNH2, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, ASAH1, NDUFA1, ATP1A3, ALDH7A1, PHGDH Specificity 2 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...) View the complete list with 214 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, TUBA8, UBE3A, WWOX, SLC4A10, CNTNAP2, CACNA1A, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, PCDH19, SLC25A19, ARHGEF9, DEAF1, ZEB2, CASK, CASR, SETBP1, ALG9, ARFGEF2, PANK2, PLCB1, SAMHD1, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, HCN4, BCKDK, PRICKLE1, RAB3GAP1, CPA6, CENPJ, ADGRV1, NDE1, FKRP, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ATP6V0A2, RNASEH2A, STX1B, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNA7, CHRNB2, POMT2, SLC25A22, PRICKLE2, MBD5, L2HGDH, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, ANKRD11, NHLRC1, BRAT1, VPS13B, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, CPT2, KIF1BP, CRH, RNASEH2C, WDR62, KANSL1, SMC3, CSTB, CTSD, CTSF, CUL4B, OFD1, RNASEH2B, PIGV, CYP27A1, DCX, TSEN54, MFSD8, NIPBL, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, TBL1XR1, DYNC1H1, DNM1, DPYD, ATP13A2, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EMX2, EPM2A, FKTN, FGD1, FGFR3, FLNA, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GFAP, GLDC, ALPL, GNAO1, GOSR2, GPC3, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HNRNPU, HPRT1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, LAMA2, LARGE1, LBR, LGI1, LMNB2, MCPH1, MECP2, MEF2C, KMT2D, ASAH1, NDUFA1, NOTCH3, NR2F1, ATP1A2, NRXN1, ATP1A3, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, ALDH7A1, ATRX, PEX7, PHGDH, SERPINI1, PIGA, PIGN, PLA2G6, PLP1, PNKP, POLG, POMT1, PPT1, PQBP1, PURA, QARS, RAI1, RELN Specificity 1 % Genes 100 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...) View the complete list with 124 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN Specificity 1 % Genes 100 %
DEPDC5 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). DEPDC5 Specificity 100 % Genes 100 %
CustomNext: Neuro. By Ambry Genetics (United States). RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...) View the complete list with 176 more genes Panel complete gene list RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1 Specificity 1 % Genes 100 %
Neurodevelopment-Expanded. By Ambry Genetics (United States). RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...) View the complete list with 176 more genes Panel complete gene list RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1 Specificity 1 % Genes 100 %
EpiFirst-Focal. By Ambry Genetics (United States). SCN1A, SCN1B, DEPDC5, KCNT1, CHRNA2, CHRNA4, CHRNB2, CRH, PRRT2, GRIN2A, LGI1 Specificity 10 % Genes 100 %
EpilepsyNext. By Ambry Genetics (United States). SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2 , (...) View the complete list with 80 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, PCDH19, ARHGEF9, ZEB2, CASK, PLCB1, DNAJC5, SCARB2, PRICKLE1, ARX, DEPDC5, STX1B, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, SLC13A5, CRH, CSTB, CTSD, CTSF, DCX, MFSD8, WDR45, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, ATP13A2, PNPO, PRRT2, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, LGI1, MECP2, MEF2C, ATP1A2, NRXN1, ALDH7A1, PIGA, PNKP, POLG, PPT1, PURA Specificity 1 % Genes 100 %

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Sources and references

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