Malformations of Cortical Development

Pang, Trudy; Atefy, Ramin; Sheen, Volney L.

doi:10.1097/nrl.0b013e31816606b9

Cited by 140 publications

(140 citation statements)

References 94 publications

(103 reference statements)

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“…Neurodevelopmental disorders can originate by subtle or severe alterations of various neurogenic processes, including neuronal generation, migration, maturation and connectivity that are responsible for adult brain dysfunction [89]. Among developmental disorders, cortical alterations constitute an important example of how embryonic deficits affect adult neurological function.…”

Section: Pathophysiological Implications Of the Neurodevelopmental Romentioning

confidence: 99%

Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development

Díaz-Alonso

Guzmán

Galve‐Roperh

2012

Phil. Trans. R. Soc. B

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During brain development, neurogenesis is precisely regulated by the concerted action of intrinsic factors and extracellular signalling systems that provide the necessary niche information to proliferating and differentiating cells. A number of recent studies have revealed a previously unknown role for the endocannabinoid (ECB) system in the control of embryonic neuronal development and maturation. Thus, the CB 1 cannabinoid receptor in concert with locally produced ECBs regulates neural progenitor (NP) proliferation, pyramidal specification and axonal navigation. In addition, subcellularly restricted ECB production acts as an axonal growth cone signal to regulate interneuron morphogenesis. These findings provide the rationale for understanding better the consequences of prenatal cannabinoid exposure, and emphasize a novel role of ECBs as neurogenic instructive cues involved in cortical development. In this review the implications of altered CB 1 -receptor-mediated signalling in developmental disorders and particularly in epileptogenesis are briefly discussed.

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Section: Pathophysiological Implications Of the Neurodevelopmental Romentioning

confidence: 99%

Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development

Díaz-Alonso

Guzmán

Galve‐Roperh

2012

Phil. Trans. R. Soc. B

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“…SCH may be in various forms including nodular, curvilinear or mixed. Thin overlying cortex and shallow sulci are characteristic findings for SCH ( Figure 6) [1,19] . SCH is a rare developmental malformation seen primarily in female and may be familial with X-linked dominant inheritance.…”

Section: Disorders Of Migrationmentioning

confidence: 99%

“…SCH is a rare developmental malformation seen primarily in female and may be familial with X-linked dominant inheritance. On MRI, it shows a characteristic two parallel layers of gray matter separated by a thin white matter layer (3-layer cake: A thin outer ribbon, a very thin layer of white matter and a thick inner band ( Figure 7) [1,19] . Lissencephaly: Lissencephaly is defined as smooth brain and characterized with the absent normal gyral and sulcal pattern of the brain.…”

Section: Disorders Of Migrationmentioning

confidence: 99%

Malformations of cortical development: 3T magnetic resonance imaging features

Battal

İnce

Akgün

et al. 2015

WJR

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nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e. , cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. MINIREVIEWS 329October 28, 2015|Volume 7|Issue 10|

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“…Development of the cerebral cortex is complex and involves proliferation, migration, and organization of neural progenitor cells [2,3]. Abnormalities at any stage during cerebral cortex development could result in a wide range of phenotypes, ranging from focal cortical dysplasia to hemimegalencephaly (HME) which show the enlargement of one hemisphere of brain (Fig.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetic decoding of malformations of cortical development

Lim

Lee

2015

J Genet Med

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JGM is likely to be affected. As novel genes and variants associated with MCD are discovered using next-generation sequencing (NGS) technology, an updated classification system for MCD has become more reliant on NGS findings [1,4]. Identification of disease-causing mutations, including inherited or de novo mutation, in MCD has revealed the molecular genetic basis of clinical manifestations [5][6][7][8][9]. As an example, recently identified genes responsible for microcephaly were found to encode DNA repair systems and centrosomal proteins that are crucial for regulating cell division [5,10,11].The current challenge is to validate the increasing number of disease-causing mutations that are being identified by NGS. Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as nextgeneration sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.

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Malformations of Cortical Development

Cited by 140 publications

References 94 publications

Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development

Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development

Malformations of cortical development: 3T magnetic resonance imaging features

Molecular genetic decoding of malformations of cortical development

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Malformations of Cortical Development

Cited by 140 publications

References 94 publications

Endocannabinoids via CB1receptors act as neurogenic niche cues during cortical development

Endocannabinoids via CB1receptors act as neurogenic niche cues during cortical development

Malformations of cortical development: 3T magnetic resonance imaging features

Molecular genetic decoding of malformations of cortical development

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Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development

Endocannabinoids via CB₁receptors act as neurogenic niche cues during cortical development