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

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

http://www.wikidata.org/entity/Q26858999

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Expression Analysis Highlights AXL as a Candidate Zika Virus Entry Receptor in Neural Stem Cells RTTN mutations link primary cilia function to organization of the human cerebral cortex Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Comparative Analysis Between Flaviviruses Reveals Specific Neural Stem Cell Tropism for Zika Virus in the Mouse Developing Neocortex Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages Computational analysis in epilepsy neuroimaging: A survey of features and methods Cerebral cortex expansion and folding: what have we learned?Malformations of cortical development: 3T magnetic resonance imaging features Genes and brain malformations associated with abnormal neuron positioning Physical biology of human brain development Hemispherectomy in the treatment of seizures: a review Epilepsy related to developmental tumors and malformations of cortical development Extracellular and Intracellular Signaling for Neuronal Polarity A restricted period for formation of outer subventricular zone defined by Cdh1 and Trnp1 levels.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Whole-brain MRI phenotyping in dysplasia-related frontal lobe epilepsy.The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.Editorial brain malformation surveillance in the Zika era Genetic Basis of Brain Malformations Diagnostic methods and treatment options for focal cortical dysplasia Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly Interleukin-1 beta guides the migration of cortical neurons Molecular and cellular insights into Zika virus-related neuropathies Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene Coevolution of radial glial cells and the cerebral cortex Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project Pacemaker GABA synaptic activity may contribute to network synchronization in pediatric cortical dysplasia Midline brain-in-brain malformation associated with bilateral perirolandic cortical abnormalities: an image review of this rare disorder.Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: normal-looking neurons reveal the presence of a hidden laminar organization.Automated detection of cortical dysplasia type II in MRI-negative epilepsy Leading-process actomyosin coordinates organelle positioning and adhesion receptor dynamics in radially migrating cerebellar granule neurons De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.Intrinsic epileptogenicity of dysplastic cortex: converging data from experimental models and human patients.TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.The genetics of lissencephaly.Polymicrogyria: a common and heterogeneous malformation of cortical development.

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

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A James Barkovich

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Graeme D Jackson

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Sex-dependent association of common variants of microcephaly genes with brain structure

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Development and evolution of the human neocortex

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

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10.1093/BRAIN/AWS019

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Pt 5

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William B. Dobyns

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