Epileptic Encephalopathy, Early Infantile, 47; Eiee47

Description

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella 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, 47; Eiee47

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Cognitive impairment
  • Feeding difficulties
  • Delayed speech and language development
  • Visual impairment

And another 26 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

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Epileptic Encephalopathy, Early Infantile, 47; Eiee47 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Brugada syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Brugada syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Cardiac channelopathy Deletion/ Duplication panel.

By Connective Tissue Gene Tests (United States).

RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Brugada syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SCN10A, SCN1B, SCN2B, SCN5A, SEMA3A, CACNA1C, CACNA2D1, CACNB2, CAV3, SLMAP, HCN4, RANGRF, SCN3B, GPD1L, FGF12, GAA, GLA, ANK2, ABCC9, KCND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Cardiac channelopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Cardiac channelopathy NGS panel.

By Connective Tissue Gene Tests (United States).

RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SEMA3A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, NOS1AP, HCN4 , (...)

View the complete list with 21 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 Search Engine

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