Malformations of cortical development: genetic mechanisms and diagnostic approach
نویسنده
چکیده
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.
منابع مشابه
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders
Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissen...
متن کاملGenetics of disorders of cortical development.
Since the advent of MR imaging, cortical malformations have become an increasingly recognized cause of epilepsy and neurologic impairment. Improved radiographic characterization of cortical malformations has been requisite to defining their genetics, and a large portion of these disorders are now known to have a genetic basis. Uncovering genetic etiologies has provided insight into phenotypic d...
متن کاملA developmental and genetic classification for malformations of cortical development: update 2012
Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the understanding of these disorders. The authors propose a revised classification based on the stage of development (cell proliferation, neuronal migration, co...
متن کاملGenomic variants and variations in malformations of cortical development.
Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes have been identified in patients with MCD. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These somatic mutations may not ...
متن کاملCytoarchitecture and transcriptional profiles of neocortical malformations in inbred mice.
Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or ...
متن کامل