Epilepsy, Idiopathic Generalized, Susceptibility To, 12; Eig12

Table of contents:

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

Genes related to Epilepsy, Idiopathic Generalized, Susceptibility To, 12; Eig12

SLC2A1

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Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Idiopathic Generalized, Susceptibility To, 12; Eig12

Intellectual disability
Seizures
Microcephaly
Ataxia
Myoclonus
Intellectual disability, moderate
Generalized tonic-clonic seizures
Dyskinesia
Generalized-onset seizure
Absence seizures

And another 3 symptoms. If you need more information about this disease we can help you.

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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.

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.

Epilepsy, Idiopathic Generalized, Susceptibility To, 12; Eig12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC2A1 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). SLC2A1 Specificity 100 % Genes 100 %
SLC2A1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). SLC2A1 Specificity 100 % Genes 100 %
SLC2A1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). SLC2A1 Specificity 100 % Genes 100 %
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 %
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 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Specificity 2 % Genes 100 %

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Sources and references

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