Epileptic Encephalopathy, Early Infantile, 26; Eiee26

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 Epileptic Encephalopathy, Early Infantile, 26; Eiee26

KCNB1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 26; Eiee26

Seizures
Global developmental delay
Generalized hypotonia
Cognitive impairment
Motor delay
Absent speech
Encephalopathy
Generalized tonic-clonic seizures
Epileptic encephalopathy
Hypsarrhythmia

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Epileptic Encephalopathy, Early Infantile, 26; Eiee26 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Early Infantile Epileptic Encephalopathy Panel. By Genetic Services Laboratory University of Chicago (United States). SCN1A, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC2A1, SPTAN1, CDKL5, STXBP1, SYNGAP1, WWOX, CACNA2D2, PCDH19, ARHGEF9, CASK, ARFGEF2, PLCB1, EFHC1, ARX, KCNT1 , (...) View the complete list with 25 more genes Panel complete gene list SCN1A, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC2A1, SPTAN1, CDKL5, STXBP1, SYNGAP1, WWOX, CACNA2D2, PCDH19, ARHGEF9, CASK, ARFGEF2, PLCB1, EFHC1, ARX, KCNT1, CHD2, DOCK7, SLC25A22, CLCN4, BRAT1, SLC13A5, ETHE1, NECAP1, SZT2, TBC1D24, DNM1, ALG13, EEF1A2, GABRA1, GABRB3, GNAO1, GRIN2A, GRIN2B, HCN1, KCNA2, KCNB1, KCNH5, KCNQ2, PNKP, POLG Specificity 3 % Genes 100 %
Rapid Epilepsy Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SCN1A, SCN2A, SCN8A, SLC2A1, SLC6A8, NHLRC1, CSTB, PNPO, EPM2A, GAMT, GATM, GRIN2A, GRIN2B, KCNB1, KCNQ2, ALDH7A1 Specificity 7 % Genes 100 %
Rapid Epilepsy Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SCN1A, SCN2A, SCN8A, SLC2A1, SLC6A8, NHLRC1, CSTB, PNPO, EPM2A, GAMT, GATM, GRIN2A, GRIN2B, KCNB1, KCNQ2, ALDH7A1 Specificity 7 % Genes 100 %
CHOP Epilepsy Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...) View the complete list with 64 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A, PCDH19, ARHGEF9, ZEB2, PIGT, CASK, PLCB1, SCARB2, PRICKLE1, ARX, DEPDC5, STX1B, CHD2, SLC25A22, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, SLC13A5, PIGO, CSTB, CTSD, MFSD8, WDR45, SZT2, IQSEC2, TBC1D24, DYNC1H1, DNM1, PNPO, PRRT2, ALG13, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNA2, KCNB1, KCNJ10, KCNQ2, KCNQ3, LGI1, MEF2C, ASAH1, ALDH7A1, PIGA, PNKP, PPT1, PURA, QARS, RELN Specificity 2 % Genes 100 %
Rapid Epilepsy Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SCN1A, SCN2A, SCN8A, SLC2A1, SLC6A8, NHLRC1, CSTB, PNPO, EPM2A, GAMT, GATM, GRIN2A, GRIN2B, KCNB1, KCNQ2, ALDH7A1 Specificity 7 % Genes 100 %
Early infantile epileptic encephalopathy (NGS panel for 26 genes). By CGC Genetics (Portugal). SCN1A, SCN2A, SCN8A, ST3GAL3, SPTAN1, CDKL5, STXBP1, WWOX, PCDH19, ARHGEF9, PLCB1, ARX, KCNT1, DOCK7, SLC25A22, SLC13A5, SZT2, TBC1D24, DNM1, GABRA1 , (...) View the complete list with 6 more genes Panel complete gene list SCN1A, SCN2A, SCN8A, ST3GAL3, SPTAN1, CDKL5, STXBP1, WWOX, PCDH19, ARHGEF9, PLCB1, ARX, KCNT1, DOCK7, SLC25A22, SLC13A5, SZT2, TBC1D24, DNM1, GABRA1, GNAO1, GRIN2B, HCN1, KCNB1, KCNQ2, PNKP Specificity 4 % Genes 100 %

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Sources and references

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