<b><i>HNRNPU</i></b>: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism
نویسندگان
چکیده
منابع مشابه
Cellular reprogramming to study intellectual disability and neurodevelopmental disorders
Introduction Many neurodevelopmental disorders with intellectual disability and autism spectrum disorder syndromes have overlapping genetic and molecular connections. Effective treatments for such genetic neurodevelopmental disorders have not been established yet. Possible reasons include the lack of suitable disease models of human neurons and a limited understanding of the etiological and neu...
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Introduction The association between Autism Spectrum Disorders (ASD) and epilepsy has been extensively documented and the estimated prevalence varies, depending upon the selected population and the clinical characteristics. Children with early-onset epilepsy and early brain damage have a higher risk of presenting ASD compared to those without epilepsy. Genetic abnormalities are likely implicate...
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The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function. The top-down approaches using human phenotypes and genetics helped identify causative genes and uncovered the broad spectrum of neuropsychiatric features that can result from various mutat...
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Autism spectrum disorders (ASD) and epilepsy are very common neurological disorders of childhood, with an estimated incidence of about 0.5 - 1 % in worldwide population. ASD and epilepsy are often associated, suggesting that common neurodevelopmental bases may exist for these two disorders. The neurodevelopmental bases of both ASD and epilepsy have been clearly showed by a number of genetic, ne...
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There are several lines of evidence supporting the role of de novo mutations as a mechanism for common disorders, such as autism and schizophrenia. First, the de novo mutation rate in humans is relatively high, so new mutations are generated at a high frequency in the population. However, de novo mutations have not been reported in most common diseases. Mutations in genes leading to severe dise...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2018
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000495204