Epileptic Encephalopathy, Early Infantile, 48; Eiee48

Description

Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum 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, 48; Eiee48

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Feeding difficulties
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Cerebral atrophy

And another 12 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, 48; Eiee48 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
AP3B2.

By Fulgent Genetics Fulgent Genetics (United States).

AP3B2
Specificity
100 %
Genes
100 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics (Spain).

SCN1A, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC1A2, SLC25A12, SPTAN1, CDKL5, STXBP1, CACNA1A, PCDH19, ARHGEF9, PLCB1, ARX, AARS, TBC1D24, DNM1, ALG13, GABRA1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOPATHY, CENTRONUCLEAR, 1; CNM1 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A IMMUNODEFICIENCY 32A; IMD32A

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