PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

Abstract Protein‐activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21‐activated kinases (PAKs) family of Ras‐signaling serine/threonine kinases. Pathogenic variants in the X‐linked gene PAK3 have been described in patients with neurodevelopmental syndromes....

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Main Authors: Antonio Gambardella, Yu‐Chi Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew J. Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gecz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Epilepsia Open
Subjects:
facial dysmorphism
genetic counseling
PAK3
parental mosaicism
sleep‐related hypermotor epilepsy
Online Access:https://doi.org/10.1002/epi4.13124
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