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Lissencephaly: Update on diagnostics and clinical management

Published:October 06, 2021DOI:https://doi.org/10.1016/j.ejpn.2021.09.013

      Highlights

      • Lissencephaly is spectrum of malformations of cortical development including agyria, pachygyria and subcortical band heterotopia
      • Lissencephaly is a heterogeneous genetic disorder with more than 30 associated genes
      • Intractable epilepsy is a major clinical challenge with only symptomatic therapy available to date

      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.
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