Epileptic Encephalopathy, Early Infantile, 57; Eiee57

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 57; Eiee57

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hypoplasia of the corpus callosum
  • Myoclonus
  • Neonatal hypotonia
  • Developmental regression
  • Generalized myoclonic seizures
  • Epileptic encephalopathy

And another 2 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, 57; Eiee57 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KCNT2.

By Fulgent Genetics Fulgent Genetics (United States).

KCNT2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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