Epileptic Encephalopathy, Early Infantile, 47; Eiee47

Table of contents:

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

Description

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Genes related to Epileptic Encephalopathy, Early Infantile, 47; Eiee47

FGF12

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Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 47; Eiee47

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Ataxia
Cognitive impairment
Feeding difficulties
Delayed speech and language development
Visual impairment

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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.

Epileptic Encephalopathy, Early Infantile, 47; Eiee47 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...) View the complete list with 457 more genes Panel complete gene list BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1, SOX10, BTD, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, CDKL5, STUB1, STXBP1, SUCLG1, SUOX, SURF1, TBCE, TWNK, TCF4, TCN2, TH, ACO2, TINF2, NKX2-1, TRPC3, TSFM, CEP41, TTPA, TTR, UBE3A, UCHL1, UQCRB, VAMP1, VARS, VLDLR, VRK1, WFS1, WWOX, XPA, XRCC4, YME1L1, ZIC1, SAMD9L, ATP8A2, ERLIN2, FBXL4, AAAS, PRX, CA8, CACNA1A, CACNA1G, PRDM8, CACNB4, PCDH19, SCYL1, ELOVL4, TMEM237, NPC2, CAPN1, PUM1, CASK, SNX14, CAV1, TSEN34, CHCHD10, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, APTX, SLC52A3, DNAJC5, TGM6, SLC19A3, PNPLA6, KIF1B, SCARB2, COQ8A, DGAT2, ERLIN1, PRICKLE1, NIPA1, MLC1, SYNE1, SLC39A4, RRM2B, TRNT1, TPK1, GJC2, PDSS1, TDP2, EXOSC3, FKRP, ADA2, NAXE, RNASEH1, SPART, CPT1C, COG4, RTN4IP1, PMPCA, ATPAF2, CAMTA1, NDUFAF1, TDP1, GBA2, NALCN, EBF3, POMGNT1, TTBK2, MECR, COQ4, DDHD1, POMT2, TECPR2, KIAA0586, CCDC88C, POLR1C, CLCN2, COQ6, NUBPL, CHAMP1, PRICKLE2, NDUFA11, SPG21, SUMF1, ZIC4, MBD5, APOPT1, L2HGDH, CYP2U1, TPP1, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, TUBB, CLN8, CLPP, AARS2, HACE1, NDUFAF4, FARS2, FA2H, ELOVL5, RARS2, INPP5E, AHI1, NHLRC1, RNASET2, RNF216, BRAT1, COL18A1, KCTD7, AP5Z1, COX10, COX15, COX6B1, GMPPB, CP, PEX26, PDSS2, SLC13A5, SYT14, ALG6, UBA5, ETHE1, NDUFA12, B9D1, BEAN1, PTRH2, TACO1, WDR62, TCTN3, SIL1, FLVCR1, CSTB, CEP104, CTBP1, OTUD4, CTDP1, TMEM216, MARS2, LRSAM1, TMEM240, SLC25A46, MMADHC, COQ2, CTSD, COQ9, CTSF, RNF170, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, TRAPPC11, TCTN2, REEP1, CPLANE1, POMGNT2, WDR73, PIGG, TTC19, CYP27A1, TMEM70, TCTN1, CTC1, CSPP1, PIEZO2, HEPACAM, UROC1, CYP7B1, WDR81, RNF168, CEP120, NAT8L, C12orf65, FOXRED1, TMEM138, COX20, DBT, DCX, IBA57, TSEN54, SLC6A19, NDUFAF2, TMEM107, COX14, VWA3B, TMEM67, TSEN2, MFSD8, NDUFAF6, DKC1, DLAT, DLD, ZNF592, RUBCN, CEP290, KIAA0556, IFT140, TELO2, ADSL, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, CC2D2A, DMXL2, SH3TC2, ROGDI, KIDINS220, ARV1, UQCRQ, DYNC1H1, MTFMT, DNM2, DNMT1, DOCK3, NDUFAF3, PIK3R5, DPM1, POLR3A, ATP13A2, RFT1, SLC52A2, POLR3B, KIF7, PRRT2, SLC46A1, DNAJC19, SEPSECS, TYMP, AFG3L2, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOMES, COA5, SDHAF1, EPM2A, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FKTN, FGF12, FGF14, ISPD, FMR1, FOLR1, FOXG1, FXN, FTL, PET100, ALDH5A1, GABRB3, GALC, B4GALNT1, GAMT, GAN, GBE1, GCH1, GFAP, GJA1, GJB1, GLB1, GCLC, ALS2, GOSR2, SETX, GPI, AMACR, ADGRG1, GRID2, GRM1, GRN, GSS, ABCB7, HARS, HCN1, HERC1, HEXA, HEXB, HIBCH, HLCS, HNRNPH2, HSD17B4, HSPD1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNQ2, KIF1C, KIF5A, L1CAM, LAMA1, LARGE1, LIG4, LMNB1, LMNB2, LRP4, MAG, MAPK10, ARL6IP1, MECP2, MKS1, ARSA, MME, MPDU1, MPV17, MPZ, MRE11, ASL, MT-TP, MVK, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NF2, ATCAY, NOL3, PNP, NPC1, NPHP1, ATM, ATP1A2, ATP1A3, NT5C2, NUP62, OPA1, OPA3, OPHN1, ATP2B3, OTC, PAX6, PC, ATP7B, PCNA, CHMP1A, PDE6D, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX16, PEX7, KIF1A, PGK1, AUH, PGM3, PHYH, PLA2G6, PLP1, PMM2, PMP22, PNKD, PNKP, POLG, POMT1, CTSA, PPT1, PRF1, PRKCG, DNAJC3, PRNP, PRPS1, HTRA1, PSAP, SLC33A1, PSEN1, PTS, PEX2, ALDH18A1, BCKDHA, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...) View the complete list with 202 more genes Panel complete gene list RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, JMJD1C, TSC1, TSC2, UBE3A, WWOX, YWHAG, FRRS1L, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, PRDM8, CACNA2D2, CACNB4, NPRL3, PIGQ, CAD, CERS1, PCDH19, ARHGEF9, ZEB2, CASK, CASR, CBL, GPHN, ARHGEF15, PLCB1, DNAJC5, SLC19A3, EFHC1, LIAS, SCARB2, BCKDK, PRICKLE1, CPA6, TPK1, NGLY1, ARID1B, ARX, SPATA5, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ZDHHC9, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, DENND5A, CHRNA2, CHRNA4, CHRNB2, COQ4, SLC25A22, SNX27, CLCN4, PRICKLE2, MBD5, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, CLTC, NUS1, FARS2, ANKRD11, NHLRC1, SATB2, BRAT1, CNTN2, KPNA7, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, UBA5, NECAP1, KANSL1, EHMT1, CSTB, NPRL2, CTSD, CARS2, GUF1, PIGG, RBFOX3, DDX3X, MFSD8, DIAPH1, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, C12orf57, TBL1XR1, ARV1, DNM1, DNMT3A, HECW2, PACS1, PIK3AP1, STRADA, PNPO, PIGP, PRRT2, SRPX2, ALG13, DYRK1A, EEF1A2, EPM2A, FASN, FGF12, FLNA, FOLR1, FOXG1, MTOR, GABRA1, ALDH5A1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GAMT, GATM, GCSH, GLDC, GLRA1, GNAO1, GOSR2, GABBR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, AMT, HCN1, HCN2, HIVEP2, HNRNPU, AP3B2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MDH2, MECP2, MEF2C, NAGA, NEDD4L, NF1, ATP1A2, NRXN1, ATP1A3, NTRK2, ALDH7A1, ATRX, SERPINI1, PIGA, PIGN, PNKD, PNKP, POLG, PPP2R1A, PPP3CA, PPT1, PLPBP, PTEN, PURA, QARS, RAB11A, RANBP2, RELN Specificity 1 % Genes 100 %
Brugada syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...) View the complete list with 6 more genes Panel complete gene list SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2, KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2 Specificity 4 % Genes 100 %
Brugada syndrome and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...) View the complete list with 6 more genes Panel complete gene list SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2, KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2 Specificity 4 % Genes 100 %
Cardiac channelopathy Deletion/ Duplication panel. By Connective Tissue Gene Tests (United States). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...) View the complete list with 21 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4, RANGRF, TRPM4, SCN3B, TECRL, GPD1L, FGF12, AKAP9, ANK2, ABCC9, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2 Specificity 3 % Genes 100 %
Brugada syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...) View the complete list with 6 more genes Panel complete gene list SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2, KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2 Specificity 4 % Genes 100 %
Cardiac channelopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...) View the complete list with 21 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4, RANGRF, TRPM4, SCN3B, TECRL, GPD1L, FGF12, AKAP9, ANK2, ABCC9, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2 Specificity 3 % Genes 100 %
Cardiac channelopathy NGS panel. By Connective Tissue Gene Tests (United States). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...) View the complete list with 21 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4, RANGRF, TRPM4, SCN3B, TECRL, GPD1L, FGF12, AKAP9, ANK2, ABCC9, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2 Specificity 3 % Genes 100 %

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Sources and references

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