Review
doi: 10.1016/j.ejpn.2021.09.013.
Epub 2021 Oct 7.
Lissencephaly: Update on diagnostics and clinical management
Affiliations
- PMID: 34731701
- DOI: 10.1016/j.ejpn.2021.09.013
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Review
Lissencephaly: Update on diagnostics and clinical management
Eur J Paediatr Neurol.
2021 Nov.
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.
Copyright © 2021. Published by Elsevier Ltd.
Conflict of interest statement
Declaration of competing interest All authors declare no conflict of interest.
Comment in
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Letter to the Editor regarding the manuscript "Lissencephaly: Update on diagnostics and clinical management" by Koenig et al. Eur J Paediatr Neurol. 2021; 35; 147-152.Eur J Paediatr Neurol. 2022 Mar;37:165. doi: 10.1016/j.ejpn.2022.01.016. Epub 2022 Feb 15. Eur J Paediatr Neurol. 2022. PMID: 35221227 No abstract available.
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