Lissencephaly: Update on diagnostics and clinical management

Matti Koenig; William B Dobyns; Nataliya Di Donato

doi:10.1016/j.ejpn.2021.09.013

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.

Authors

Matti Koenig¹, William B Dobyns², Nataliya Di Donato³

Affiliations

¹ Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany.
² Department of Pediatrics (Genetics), University of Minnesota, Minneapolis, MN, USA.
³ Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany. Electronic address: nataliya.didonato@uniklinikum-dresden.de.

PMID: 34731701
DOI: 10.1016/j.ejpn.2021.09.013

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