Lissencephaly: Update on diagnostics and clinical management

Matti Koenig, William B. Dobyns, Nataliya Di Donato

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)147-152
Number of pages6
JournalEuropean Journal of Paediatric Neurology
Volume35
DOIs
StatePublished - Nov 2021

Bibliographical note

Funding Information:
This review is a part of the collaborative activity in the NeuroMIG COST action (CA16118). Di Donato Lab is supported by German Research Foundation ( DFG DI 2170/3-1 and DI 2170/4-1 ) and German Federal Ministry of Education and Research ( BMBFEGYGERF-2018-124 ). In addition Di Donato Lab received funding from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575 .

Publisher Copyright:
© 2021

PubMed: MeSH publication types

  • Journal Article
  • Review

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