Epileptic Encephalopathy, Early Infantile, 43; Eiee43

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 43; Eiee43

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Encephalopathy
  • Hyperactivity
  • Generalized tonic-clonic seizures
  • Dyskinesia

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

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Incidence and onset information

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.


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Epileptic Encephalopathy, Early Infantile, 43; Eiee43 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
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
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.

By Athena Diagnostics Inc (United States).

SCN2A, ST3GAL3, SLC35A2, SPTAN1, CDKL5, STXBP1, CACNA2D1, ARX, SLC25A22, ADSL, TBL1XR1, FOXG1, GABRB3, GRIN2A, MEF2C, NR2F1
Specificity
7 %
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
Specificity
2 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
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
Specificity
3 %
Genes
100 %
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
Specificity
1 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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