1. Lissencephaly: Update on diagnostics and clinical management.
- Author
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Koenig M, Dobyns WB, and Di Donato N
- Subjects
- Cerebral Cortex, Humans, Magnetic Resonance Imaging, Mutation, Classical Lissencephalies and Subcortical Band Heterotopias diagnostic imaging, Classical Lissencephalies and Subcortical Band Heterotopias genetics, Epilepsy, Lissencephaly diagnostic imaging, Lissencephaly genetics
- 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., Competing Interests: Declaration of competing interest All authors declare no conflict of interest., (Copyright © 2021. Published by Elsevier Ltd.)
- Published
- 2021
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