A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children-Reference-Cited by-同舟云学术

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

Published:2023-12 Issue: Volume:149 Page:84-92
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

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

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference37 articles.

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3. Activating mutations in PAK1, encoding p21-activated kinase 1, cause a neurodevelopmental disorder;Harms;Am J Hum Genet,2018

4. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly;Ohori;J Hum Genet,2020

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3. Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature;American Journal of Medical Genetics Part A;2024-02-07