Seizures, Benign Familial Infantile, 2; Bfis2

Table of contents:

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

Description

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

Genes related to Seizures, Benign Familial Infantile, 2; Bfis2

PRRT2

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Clinical Features

Top most frequent phenotypes and symptoms related to Seizures, Benign Familial Infantile, 2; Bfis2

Seizures
Generalized hypotonia
Pallor
Generalized tonic-clonic seizures
Dyskinesia
Migraine
Focal-onset seizure
Febrile seizures
Cyanosis
Generalized-onset seizure

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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

Seizures, Benign Familial Infantile, 2; Bfis2 Is also known as bfic2, convulsions, benign familial infantile, 2.

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.

Seizures, Benign Familial Infantile, 2; Bfis2 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 - Epilepsy with Migraine. By Athena Diagnostics Inc (United States). SCN1A, SLC2A1, CACNA1A, PRRT2, NOTCH3, ATP1A2, POLG Specificity 15 % Genes 100 %
PRRT2 (Dyskinesia/IC) Sequencing Test. By Athena Diagnostics Inc (United States). PRRT2 Specificity 100 % 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 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...) View the complete list with 57 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, TPK1, TREM2, ARX, RNASEH2A, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, GAMT, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, AUH, PLP1, PNKD, PSEN1, PTEN, PTS, QDPR Specificity 2 % 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 %

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Sources and references

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