A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Malformations of cortical development: clinical features and genetic causes

R Guerrini, WB Dobyns - The Lancet Neurology, 2014 - thelancet.com
Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …

[图书][B] Pediatric neuroimaging

AJ Barkovich - 2005 - books.google.com
The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates
the full range of pediatric disorders diagnosable by modern neuroimaging. This edition …

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

N Di Donato, AE Timms, KA Aldinger, GM Mirzaa… - Genetics in …, 2018 - nature.com
Purpose To estimate diagnostic yield and genotype-phenotype correlations in a cohort of
811 patients with lissencephaly or subcortical band heterotopia. Methods We collected DNA …

Malformations of cortical development: burdens and insights from important causes of human epilepsy

SM Sisodiya - The Lancet Neurology, 2004 - thelancet.com
Malformations of cortical development (MCD) are important causes of chronic epilepsy in
human beings. A blanket term, MCD encompasses many varied developmental disorders …

The multipolar stage and disruptions in neuronal migration

JJ LoTurco, J Bai - Trends in neurosciences, 2006 - cell.com
The genetic basis is now known for several disorders of neuronal migration in the
developing cerebral cortex. Identification of the cellular processes mediated by the …

The spectrum of structural and functional network alterations in malformations of cortical development

SJ Hong, BC Bernhardt, RS Gill, N Bernasconi… - Brain, 2017 - academic.oup.com
Neuroimaging studies of malformations of cortical development have mainly focused on the
characterization of the primary lesional substrate, while whole-brain investigations remain …

The genetics of lissencephaly

AE Fry, TD Cushion, DT Pilz - American Journal of Medical …, 2014 - Wiley Online Library
Lissencephaly is a spectrum of severe brain malformations caused by the failure of
migrating neurons to reach optimal positions in the developing cerebral cortex. Several …

Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder

JB Manent, Y Wang, YJ Chang, M Paramasivam… - Nature medicine, 2009 - nature.com
Disorders of neuronal migration can lead to malformations of the cerebral neocortex that
greatly increase the risk of seizures. It remains untested whether malformations caused by …

Voxel‐based 3D MRI analysis helps to detect subtle forms of subcortical band heterotopia

HJ Huppertz, J Wellmer, AM Staack, DM Altenmüller… - …, 2008 - Wiley Online Library
Purpose: To evaluate the potential diagnostic value of a novel magnetic resonance image
(MRI) postprocessing technique in subtle forms of subcortical band heterotopia (SBH). The …