Litcius/Paper detail

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

Giovanna Scorrano, Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Rebecca Buchert, Urania Kotzaeridou, Giulia Iapadre, Giovanni Farello, Michele Iacomino, Fedele Dono, Ludovica Di Francesco, Maria Francesca Fiorile, Saverio La Bella, Antonio Corsello, Elisa Calì, Gabriella Di Rosa, Eloisa Gitto, Alberto Verrotti, Sara Fortuna, Miguel A. Soler, Francesco Chiarelli, Barbara Oehl‐Jaschkowitz, Tobias B. Haack, Federico Zara, Pasquale Striano, Vincenzo Salpietro

2023Pediatric Neurology10 citationsDOI

Topics & Concepts

PAK1BiologyExome sequencingPhenotypeMissense mutationGeneticsKinaseBioinformaticsGeneProtein Kinase Regulation and GTPase SignalingGenomics and Rare DiseasesCellular transport and secretion