The influence of genetics on epilepsy syndromes in infancy and childhood

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Genetics is rapidly evolving and is actively playing a role in how we diagnose and manage epilepsy. The definition of an epilepsy syndrome has changed throughout the years. The International League Against Epilepsy (ILAE) has developed a classification of the epilepsies and has recently described specific epilepsy syndromes taking into account emerging genetic information which is rapidly evolving as well as etiology-specific syndromes. Understanding genetics can help clarify the syndrome and its treatment. This review provides a history of the definition of a syndrome, and the evolving contribution of genetic information that is part of the syndromic classification. We provide few examples of several phenotypes/genotypes of epilepsy syndromes in infancy and childhood and treatment issues that may arise from the available genetic information. Epilepsy syndromes and their genetics have been rapidly changing as new gene technologies are being developed. Understanding genetics can help clarify the syndrome, its treatment, and will help change the field of epilepsy to improve patients qualify of life by creating new means of preventing, controlling, and curing epilepsy.

Original languageEnglish (US)
Article number41
JournalActa Epileptologica
Volume4
Issue number1
DOIs
StatePublished - Dec 2022

Keywords

  • Epilepsy syndrome
  • Genetics
  • History of epilepsy genetics
  • ILAE history
  • Syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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