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Article

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiology of disease - 1 Mar 2020

Duarte Kévin, Heide Solveig, Poëa-Guyon Sandrine, Rousseau Véronique, Depienne Christel, Rastetter Agnès, Nava Caroline, Attié-Bitach Tania, Razavi Ferechté, Martinovic Jelena, Moutard Marie Laure, Cherfils Jacqueline, Mignot Cyril, Héron Delphine, Barnier Jean-Vianney

Abstract excerpt

Corpus callosum agenesis (CCA) is a brain malformation associated with a wide clinical spectrum including intellectual disability (ID) and an etiopathological complexity. We identified a novel missense G424R mutation in the X-linked p21-activated kinase 3 (PAK3) gene in a boy presenting with severe ID, microcephaly and CCA and his fetal sibling with CCA and severe hydrocephaly. PAK3 kinase is known to control...

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Identifiers

PMID: 31843706
DOI: 10.1016/j.nbd.2019.104709

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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