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美国卫生研究院文献>BMC Medical Genetics
>Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
BackgroundCopy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.
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