A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
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 …
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 …
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 …
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 …
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 …
developing cerebral cortex. Identification of the cellular processes mediated by the …
The spectrum of structural and functional network alterations in malformations of cortical development
Neuroimaging studies of malformations of cortical development have mainly focused on the
characterization of the primary lesional substrate, while whole-brain investigations remain …
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 …
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
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 …
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 …
(MRI) postprocessing technique in subtle forms of subcortical band heterotopia (SBH). The …