Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0331-z.pdf
Reference51 articles.
1. van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet. 2011;45:81–104.
2. Bowley C, Kerr M. Epilepsy and intellectual disability. J Intellect Disabil Res. 2000;44(Pt 5):529–43.
3. Reilly C, Atkinson P, Das KB, et al. Neurobehavioral comorbidities in children with active epilepsy: a population-based study. Pediatrics. 2014;133:e1586–93.
4. Chin RF, Cumberland PM, Pujar SS, Peckham C, Ross EM, Scott RC. Outcomes of childhood epilepsy at age 33 years: a population-based birth-cohort study. Epilepsia. 2011;52:1513–21.
5. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8.
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