Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Genes - 5 Aug 2021
Contrò Gianluca, Micalizzi Alessia, Giangiobbe Sara, Caraffi Stefano Giuseppe, Zuntini Roberta, Rosato Simonetta, Pollazzon Marzia, Terracciano Alessandra, Napoli Manuela, Rizzi Susanna, Salerno Grazia Gabriella, Radio Francesca Clementina, Niceta Marcello, Parrini Elena, Fusco Carlo, Gargano Giancarlo, Guerrini Renzo, Tartaglia Marco, Novelli Antonio, Zuffardi Orsetta, Garavelli Livia
Abstract excerpt
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. Variants in CEP85L, encoding a protein involved in the regulation of neuronal migration, have been recently described as causative of lissencephaly with a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.