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Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

Y Jane Tavyev Asher1, Fernando Scaglia

  • 1Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA. jane.tavyev@cshs.org

European Journal of Medical Genetics
|May 3, 2012
PubMed

Insights

Early infantile epileptic encephalopathy (EIEE) is a severe neurological disorder causing developmental delays. This review explores its genetic causes and evolving clinical features as the brain develops.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Neuroscience

Background:

  • Epilepsy diagnosis in neonates and infants is challenging.
  • Seizures in early life can indicate underlying epileptic encephalopathies.
  • Early infantile epileptic encephalopathy (EIEE) is a progressive condition with cognitive and motor impairments.

Purpose of the Study:

  • To review the molecular etiologies of EIEE.
  • To describe the clinical and electro-encephalographic changes in EIEE phenotypes.
  • To highlight how these features evolve with brain development.

Main Methods:

  • Literature review of genetic discoveries in EIEE.
  • Analysis of age-dependent clinical and electro-encephalographic features.
  • Synthesis of current knowledge on EIEE pathogenesis.

Main Results:

  • The genetic basis of EIEE is continually expanding.
  • EIEE presents with age-dependent clinical and EEG manifestations.
  • Cognitive and motor impairments are characteristic of EIEE.

Conclusions:

  • Understanding the molecular basis of EIEE is crucial for diagnosis and management.
  • EIEE is a dynamic condition whose features change with neurological maturation.
  • Further research into genetic causes will refine EIEE classification and treatment.

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