Lissencephaly: Update on diagnostics and clinical management

Eur J Paediatr Neurol. 2021 Nov;35:147-152. doi: 10.1016/j.ejpn.2021.09.013. Epub 2021 Oct 7.

Abstract

Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagnostic yield over 80%. In this review, we focus on clinical and molecular diagnosis of lissencephaly and summarize the current knowledge on histopathological changes and their correlation with the MRI imaging. Additionally we provide the overview of clinical follow-up recommendations and available data on epilepsy management in patients with lissencephaly.

Publication types

  • Review

MeSH terms

  • Cerebral Cortex
  • Classical Lissencephalies and Subcortical Band Heterotopias* / diagnostic imaging
  • Classical Lissencephalies and Subcortical Band Heterotopias* / genetics
  • Epilepsy*
  • Humans
  • Lissencephaly* / diagnostic imaging
  • Lissencephaly* / genetics
  • Magnetic Resonance Imaging
  • Mutation