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Malformations of cortical development: clinical features and genetic causes

Malformations of cortical development: clinical features and genetic causes

http://www.wikidata.org/entity/Q35188898

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Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome Genetic Basis of Brain Malformations Molecular mechanisms of epilepsy Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia Malformations of Cortical Development: From Postnatal to Fetal Imaging.The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Human mutations in integrator complex subunits link transcriptome integrity to brain development.Fate and freedom in developing neocortical circuits Gabapentin attenuates hyperexcitability in the freeze-lesion model of developmental cortical malformation.Genomic variants and variations in malformations of cortical development.Upregulation of RBFOX1 in the malformed cortex of patients with intractable epilepsy and in cultured rat neurons mTOR signaling in epilepsy: insights from malformations of cortical development Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex.Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch?Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.Astrocyte membrane properties are altered in a rat model of developmental cortical malformation but single-cell astrocytic glutamate uptake is robust.CCDC88A mutations cause PEHO-like syndrome in humans and mouse Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.Enhanced Burst-Suppression and Disruption of Local Field Potential Synchrony in a Mouse Model of Focal Cortical Dysplasia Exhibiting Spike-Wave Seizures.A novel brain tumour model in zebrafish reveals the role of YAP activation in MAPK- and PI3K-induced malignant growth.Induced pluripotent stem cells from patients with focal cortical dysplasia and refractory epilepsy.Causes and consequences of gray matter heterotopia.Genetic animal models of malformations of cortical development and epilepsy.Epilepsy surgery for pediatric epilepsy: optimal timing of surgical intervention.Lesional cerebellar epilepsy: a review of the evidence.Recent advances in epilepsy.Seizure-onset patterns in focal cortical dysplasia and neurodevelopmental tumors: Relationship with surgical prognosis and neuropathologic subtypes.Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.Genetics of Epilepsy in Clinical Practice.Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Ultra-high-field MR imaging in polymicrogyria and epilepsy No evidence for human papillomavirus infection in focal cortical dysplasia IIb.WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.Recurrent KIF2A mutations are responsible for classic lissencephaly.More Than mTOR? Novel Roles for MEK-ERK1/2 and FLNA in Tuberous Sclerosis Complex.

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Malformations of cortical development: clinical features and genetic causes

http://www.wikidata.org/entity/Q35188898

description

2014 nî lūn-bûn

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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2014 թվականի հունիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Malformations of cortical development: clinical features and genetic causes

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Malformations of cortical development: clinical features and genetic causes

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type

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Malformations of cortical development: clinical features and genetic causes

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Malformations of cortical development: clinical features and genetic causes

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Malformations of cortical development: clinical features and genetic causes

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Malformations of cortical development: clinical features and genetic causes

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S1474-4422(14)70040-7

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Lancet Neurology

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Malformations of cortical development: clinical features and genetic causes

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Renzo Guerrini

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P2860

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

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

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

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710-726

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scholarly article

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10.1016/S1474-4422(14)70040-7

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7

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13

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William B. Dobyns

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2014-06-02T00:00:00Z

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24932993

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5548104

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