Generalized Epilepsy With Febrile Seizures Plus, Type 3; Gefsp3

Table of contents:

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

Description

Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2 ).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

Genes related to Generalized Epilepsy With Febrile Seizures Plus, Type 3; Gefsp3

GABRG2

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Clinical Features

Phenotypes and symptoms related to Generalized Epilepsy With Febrile Seizures Plus, Type 3; Gefsp3

Seizures
Encephalopathy
Myoclonus
Generalized tonic-clonic seizures
Focal-onset seizure
Febrile seizures
Epileptic encephalopathy
Absence seizures
Atonic seizures

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

Generalized Epilepsy With Febrile Seizures Plus, Type 3; Gefsp3 Is also known as gefs+3, gefs+, type 3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Generalized Epilepsy With Febrile Seizures Plus, Type 3; Gefsp3 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 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...) View the complete list with 47 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1, CACNA2D2, PCDH19, SLC25A19, ARHGEF9, ZEB2, ALG9, PLCB1, SAMHD1, SLC19A3, LIAS, ARX, RNASEH2A, KCNT1, CHD2, DOCK7, SLC25A22, BRAT1, SLC13A5, RNASEH2C, RNASEH2B, WDR45, SZT2, ADSL, DNM1, PNPO, ALG13, EEF1A2, FOXG1, GABRG2, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, AMT, HCN1, HNRNPU, KCNA2, KCNB1, KCNJ11, MECP2, NRXN1, PIGA, PIGN, PNKP, PURA, QARS Specificity 2 % 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 %
Childhood Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, UBE3A, CNTNAP2, CACNB4, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNB2, MBD5, TPP1, CLN3 , (...) View the complete list with 27 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, UBE3A, CNTNAP2, CACNB4, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNB2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, CSTB, CTSD, MFSD8, WDR45, ADSL, TBC1D24, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, LGI1, MECP2, MEF2C, NRXN1, PNKP, POLG, PPT1 Specificity 3 % Genes 100 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...) View the complete list with 78 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9, ZEB2, CASK, CASR, PLCB1, DNAJC5, SLC19A3, EFHC1, LIAS, SCARB2, PRICKLE1, CPA6, ADGRV1, ARX, MAGI2, ASPM, CHRNA2, CHRNA4, CHRNB2, SLC25A22, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, WDR62, MMACHC, CSTB, CTSD, DCX, TSEN54, MFSD8, WDR45, ADSL, TBC1D24, PNPO, PRRT2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, ALDH5A1, GABRG2, GAMT, GATM, GCH1, GLDC, GOSR2, ADGRG1, GRIN2A, AMT, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, ATP1A2, NRXN1, OPHN1, PAFAH1B1, PCBD1, ALDH7A1, PHGDH, PNKP, POLG, PPT1, PSPH, PTS, QDPR Specificity 2 % Genes 100 %
Infantile Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, ZEB2, LIAS, ARX, MAGI2 , (...) View the complete list with 40 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, ZEB2, LIAS, ARX, MAGI2, SLC25A22, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, MMACHC, CTSD, MFSD8, WDR45, ADSL, TBC1D24, PNPO, PRRT2, FOLR1, FOXG1, ALDH5A1, GABRG2, GAMT, GCH1, GLDC, GRIN2A, AMT, KCNJ10, KCNQ2, KCNQ3, MECP2, MEF2C, MTHFR, NRXN1, PCBD1, ALDH7A1, PHGDH, PNKP, POLG, PPT1, PTS, QDPR Specificity 2 % Genes 100 %
Comprehensive Epilepsy Panel. By GeneDx (United States). SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYN1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, DNAJC5, EFHC1 , (...) View the complete list with 50 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYN1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, DNAJC5, EFHC1, LIAS, SCARB2, PRICKLE1, ARX, ATP6AP2, MAGI2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, SLC25A22, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, KANSL1, CSTB, CTSD, MFSD8, ADSL, TBC1D24, PNPO, PRRT2, SRPX2, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, GRIN2B, KCNJ10, KCNQ2, KCNQ3, LGI1, MECP2, MEF2C, ATP1A2, NRXN1, ALDH7A1, PNKP, POLG, PPT1 Specificity 2 % Genes 100 %

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Sources and references

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