Scientific article
Open access

Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies

Published inCurrent opinion in pediatrics, vol. 34, no. 6, p. 538-543
Publication date2022-12-01
First online date2022-09-09

Purpose of review: This article reviews the latest publications in genetic epilepsies, with an eye on publications that have had a translational impact. This review is both timely and relevant as translational discoveries in genetic epilepsies are becoming so frequent that it is difficult for the general pediatrician and even the general child neurologist to keep up.

Recent findings: We divide these publications from 2021 and 2022 into three categories: diagnostic testing, genotype-phenotype correlation, and therapies. We also summarize ongoing and upcoming clinical trials.

Summary: Two meta-analyses and systematic reviews suggest that exome and genome sequencing offer higher diagnostic yield than gene panels. Genotype-phenotype correlation studies continue to increase our knowledge of the clinical evolution of genetic epilepsy syndromes, particularly with regards to sudden death, auditory dysfunction, neonatal presentation, and magnetoencephalographic manifestations. Pyridoxine supplementation may be helpful in seizure management for various genetic epilepsies. There has been interest in using the neurosteroid ganaxolone for various genetic epilepsy syndromes, with clear efficacy in certain trials. Triheptanoin for epilepsy secondary to glucose transporter 1 ( GLUT1 ) deficiency syndrome is not clearly effective but further studies will be needed.

  • Humans
  • Epilepsy
  • Genetic Association Studies
  • Carbohydrate Metabolism, Inborn Errors
  • Epileptic Syndromes
Citation (ISO format)
ZIMMERN, Vincent, KORFF, Christian. Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies. In: Current opinion in pediatrics, 2022, vol. 34, n° 6, p. 538–543. doi: 10.1097/MOP.0000000000001170
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Article (Published version)
ISSN of the journal1040-8703

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