Epileptic Encephalopathy, Early Infantile, 37; Eiee37

Description

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 37; Eiee37

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Gait disturbance

And another 10 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, 37; Eiee37 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
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 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN2, ATXN7, TBP, NKX2-1, FRRS1L, JPH3, RNF216, ADCY5, C9orf72, FTL, GM2A, GNAO1, HTT, KCNA1, ARHGEF2, ATXN3, ATM, OPA3, PDE10A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Invitae Epilepsy Panel.

By Invitae (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae (United States).

SCN1A, SCN2A, SCN8A, SCN9A, SLC2A1, SLC35A2, SLC6A1, SMC1A, SPTAN1, CDKL5, STXBP1, SYNGAP1, WWOX, FRRS1L, CACNA2D2, PCDH19, ARHGEF9, CASK, PLCB1, ARX , (...)

View the complete list with 29 more genes
Specificity
3 %
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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