Literature DB >> 34731701

Lissencephaly: Update on diagnostics and clinical management.

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.
Copyright © 2021. Published by Elsevier Ltd.

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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


  3 in total

1.  A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects.

Authors:  Hao Huang; Jieyuan Jin; Liping Wu; Huifen Wu; Huichun Pi; Yi Dong; Rong Xiang
Journal:  Front Pediatr       Date:  2022-03-30       Impact factor: 3.418

Review 2.  Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery.

Authors:  Rachel E Williams; Karen Mruk
Journal:  Int J Mol Sci       Date:  2022-08-03       Impact factor: 6.208

Review 3.  Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.

Authors:  Giulia Fasano; Claudia Compagnucci; Bruno Dallapiccola; Marco Tartaglia; Antonella Lauri
Journal:  Front Mol Neurosci       Date:  2022-08-11       Impact factor: 6.261

  3 in total

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