| Literature DB >> 34731701 |
Matti Koenig1, William B Dobyns2, Nataliya Di Donato3.
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.Entities:
Mesh:
Year: 2021 PMID: 34731701 DOI: 10.1016/j.ejpn.2021.09.013
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN: 1090-3798 Impact factor: 3.140