Epileptic Encephalopathy, Early Infantile, 41; Eiee41

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, 41; Eiee41

SLC1A2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 41; Eiee41

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Growth delay
Spasticity
Flexion contracture
Feeding difficulties
Visual impairment

And another 22 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, 41; Eiee41 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...) View the complete list with 133 more genes Panel complete gene list RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, TUBA8, TUBB2A, TUBG1, UBE3A, WWOX, FRRS1L, CNTNAP2, CACNA1A, CACNA1H, CACNB4, NPRL3, CAD, PCDH19, ARHGEF9, ZEB2, CASK, ARFGEF2, PLCB1, SLC19A3, SCARB2, BCKDK, PRICKLE1, CPA6, ACY1, ARX, SPATA5, ATP6AP2, DEPDC5, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, TNK2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, AARS, CLCN2, MBD5, TPP1, CLN3, CLN5, TUBA1A, CLN6, TUBB3, CLN8, NACC1, FARS2, NHLRC1, BRAT1, KCTD7, SLC13A5, PIGO, CRH, NECAP1, CSTB, NPRL2, CTSD, CTSF, CARS2, PIGG, PIGV, DCX, MFSD8, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, DNM1, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, MTOR, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GFAP, GNAO1, GNB1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HCN2, HNRNPU, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MECP2, MEF2C, NEDD4L, ATP1A2, NRXN1, ATP1A3, ALDH7A1, PIGA, PNKP, POLG, PPT1, PLPBP, PURA, QARS, RELN Specificity 1 % Genes 100 %
SLC1A2. By Fulgent Genetics Fulgent Genetics (United States). SLC1A2 Specificity 100 % Genes 100 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics (Spain). SCN1A, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC1A2, SLC25A12, SPTAN1, CDKL5, STXBP1, CACNA1A, PCDH19, ARHGEF9, PLCB1, ARX, AARS, TBC1D24, DNM1, ALG13, GABRA1 , (...) View the complete list with 8 more genes Panel complete gene list SCN1A, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC1A2, SLC25A12, SPTAN1, CDKL5, STXBP1, CACNA1A, PCDH19, ARHGEF9, PLCB1, ARX, AARS, TBC1D24, DNM1, ALG13, GABRA1, GABRB3, GRIN2B, HCN1, AP3B2, ITPA, KCNQ2, PIGA, PNKP Specificity 4 % Genes 100 %

You can get up to -5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOTONIA CONGENITA, AUTOSOMAL DOMINANT PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 C SYNDROME JOUBERT SYNDROME 20; JBTS20 LEBER OPTIC ATROPHY AND DYSTONIA