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Genomic insights into the etiology and classification of the cerebral palsies

机译:基因组分析上市公司脑麻痹的病因和分类

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摘要

Cerebral palsy (CP), the most common physical disability of childhood, is a clinical diagnosis that encompasses a highly heterogeneous group of neurodevelopmental disorders resulting in movement and posture impairments that persist throughout life. Despite being commonly attributed to a variety of environmental factors, particularly to birth asphyxia, the specific cause remains unknown in the majority of individuals. Conversely, a growing body of evidence suggests that CP is likely caused by multiple genetic factors, similar to other neurodevelopmental disorders, such as autism and intellectual disability. Due to recent advances in next-generation sequencing technologies, it is now possible to sequence the entire human genome in a rapid and cost-effective way. It is likely that novel CP genes will be identified as more researchers and clinicians use this approach to study individuals with undiagnosed neurological disorders. As our knowledge of the underlying pathophysiologic mechanisms increases, so does the possibility of developing genomically-guided therapeutic interventions for CP.

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