De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neur...

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Publié dans:Brain
Auteurs principaux: Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2019
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Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6821231/
https://ncbi.nlm.nih.gov/pubmed/31504246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz264
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