Epileptic Encephalopathy, Early Infantile, 40; Eiee40

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, 40; Eiee40

GUF1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 40; Eiee40

Seizures
Generalized hypotonia
Spasticity
Myoclonus
Cerebral cortical atrophy
Epileptic encephalopathy
Hypsarrhythmia
Intellectual disability, profound
Tetraparesis
Choreoathetosis

And another 1 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.

Epileptic Encephalopathy, Early Infantile, 40; Eiee40 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Early infantile epileptic encephalopathy type 40. By Centogene AG - the Rare Disease Company (Germany). GUF1 Specificity 100 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

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

Specificity
1 %

Genes
100 %