Genetic epileptic encephalopathies: Is all written into the DNA?

Research output: Contribution to journalArticle

Abstract

Epileptic encephalopathy is a condition in which epileptic activity, clinical or subclinical, is thought to be responsible for any disturbance of cognition, behavior, or motor control. However, experimental evidence supporting this clinical observation are still poor and the causal relationship between pharmacoresistant seizures and cognitive outcome is controversial. In the past two decades, genetic studies shed new light onto complex mechanisms underlying different severe epileptic conditions associated with intellectual disability and behavioral abnormalities, thereby providing important clues on the relationship between seizures and cognitive outcome. Dravet syndrome is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment, thus well illustrating the concept of epileptic encephalopathy. However, it is difficult to determine the causative role of the underlying sodium channel dysfunction and that of the consequent seizures in influencing cognitive outcome in these children. It is also difficult to demonstrate whether a recognizable profile of cognitive impairment or a definite behavioral phenotype exists. Data from the laboratory and the clinics may provide greater insight into the degree to which epileptic activity may contribute to cognitive impairment in individual syndromes. Wiley Periodicals, Inc.

Original languageEnglish
Pages (from-to)22-26
Number of pages5
JournalEpilepsia
Volume54
Issue numberSUPPL.8
DOIs
Publication statusPublished - Nov 2013

Keywords

  • Cognition
  • Dravet syndrome
  • Encephalopathy
  • Genetics
  • SCN1A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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