Epileptic Encephalopathy, Early Infantile, 44; Eiee44

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 44; Eiee44

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Feeding difficulties
  • Hypoplasia of the corpus callosum

And another 20 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, 44; Eiee44 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
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 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

SACS, SLC9A1, SPG7, SPTBN2, STUB1, TTPA, WWOX, ATP8A2, CA8, SNX14, APTX, COQ8A, PRICKLE1, SYNE1, PMPCA, TDP1, TPP1, RNF216, CP, SYT14 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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