Epileptic Encephalopathy, Early Infantile, 34; Eiee34

Description

Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 34; Eiee34

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cerebral atrophy
  • Encephalopathy
  • Apnea
  • Developmental regression
  • Abnormal pyramidal sign
  • Inability to walk

And another 11 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.


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Epileptic Encephalopathy, Early Infantile, 34; Eiee34 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...)

View the complete list with 64 more genes
Specificity
2 %
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 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company (Germany).

SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A7, SLC4A4, CA2, SLC12A5, WNK1, WNK4, CASR, BSND, SLC4A5, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Bartter syndrome.

By Centogene AG - the Rare Disease Company (Germany).

SLC12A5
Specificity
100 %
Genes
100 %
Single gene testing SLC12A5.

By CeGaT GmbH (Germany).

SLC12A5
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC (Estonia).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A7, SLC4A4, CA2, SLC12A5, WNK1, WNK4, CASR, BSND, SLC4A5, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2 , (...)

View the complete list with 6 more genes
Specificity
4 %
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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