Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

doi:10.1093/brain/awab124

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Article

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Brain : a journal of neurology - 22 Oct 2021

Verdura Edgard, Rodríguez-Palmero Agustí, Vélez-Santamaria Valentina, Planas-Serra Laura, de la Calle Irene, Raspall-Chaure Miquel, Roubertie Agathe, Benkirane Mehdi, Saettini Francesco, Pavinato Lisa, Mandrile Giorgia, O'Leary Melanie, O'Heir Emily, Barredo Estibaliz, Chacón Almudena, Michaud Vincent, Goizet Cyril, Ruiz Montserrat, Schlüter Agatha, Rouvet Isabelle, Sala-Coromina Julia, Fossati Chiara, Iascone Maria, Canonico Francesco, Marcé-Grau Anna, de Souza Precilla, Adams David R, Casasnovas Carlos, Rehm Heidi L, Mefford Heather C, González Gutierrez-Solana Luis, Brusco Alfredo, Koenig Michel, Macaya Alfons, Pujol Aurora

Abstract excerpt

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used...

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PMID: 34415322
DOI: 10.1093/brain/awab124
PMCID: PMC8557332

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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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