De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Abstract
Using trio exome sequencing, Horn et al. identify de novo gain-of-function mutations in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes a p21-activated kinase, which has been implicated in brain development and control of brain...
Paper Details
Title
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Published Date
Aug 29, 2019
Journal
Volume
142
Issue
11
Pages
3351 - 3359
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