Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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

doi:10.1093/brain/awab124

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	2659-2669
Journal	Brain
Volume	144
Issue number	9
DOIs	https://doi.org/10.1093/brain/awab124
Publication status	Published - 21 Oct 2021

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10.1093/brain/awab124

awab124Final published version, 1.47 MBLicence: Creative Commons: Attribution Non-Commercial (CC-BY-NC)

https://academic.oup.com/brain/article/144/9/2659/6355367

Cite this

Verdura, E., Rodríguez-Palmero, A., Vélez-Santamaria, V., Planas-Serra, L., de La Calle, I., Raspall-Chaure, M., Roubertie, A., Benkirane, M., Saettini, F., Pavinato, L., Mandrile, G., O’Leary, M., O’Heir, E., Barredo, E., Chacón, A., Michaud, V., Goizet, C., Ruiz, M., Schlüter, A., ... Pujol, A. (2021). Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain, 144(9), 2659-2669. https://doi.org/10.1093/brain/awab124

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title = "Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy",

author = "Edgard Verdura and Agust{\'i} Rodr{\'i}guez-Palmero and Valentina V{\'e}lez-Santamaria and Laura Planas-Serra and \{de La Calle\}, Irene and Miquel Raspall-Chaure and Agathe Roubertie and Mehdi Benkirane and Francesco Saettini and Lisa Pavinato and Giorgia Mandrile and Melanie O{\textquoteright}Leary and Emily O{\textquoteright}Heir and Estibaliz Barredo and Almudena Chac{\'o}n and Vincent Michaud and Cyril Goizet and Montserrat Ruiz and Agatha Schl{\"u}ter and Isabelle Rouvet and Julia Sala-Coromina and Chiara Fossati and Maria Iascone and Francesco Canonico and Anna Marc{\'e}-Grau and \{de Souza\}, Precilla and Adams, \{David R\} and Carlos Casasnovas and Rehm, \{Heidi L\} and Mefford, \{Heather C\} and \{Gonz{\'a}lez Gutierrez-Solana\}, Luis and Alfredo Brusco and Michel Koenig and Alfons Macaya and Aurora Pujol",

year = "2021",

month = oct,

day = "21",

doi = "10.1093/brain/awab124",

language = "English",

volume = "144",

pages = "2659--2669",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "9",

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Verdura, E, Rodríguez-Palmero, A, Vélez-Santamaria, V, Planas-Serra, L, de La Calle, I, Raspall-Chaure, M, Roubertie, A, Benkirane, M, Saettini, F, Pavinato, L, Mandrile, G, O’Leary, M, O’Heir, E, Barredo, E, Chacón, A, Michaud, V, Goizet, C, Ruiz, M, Schlüter, A, Rouvet, I, Sala-Coromina, J, Fossati, C, Iascone, M, Canonico, F, Marcé-Grau, A, de Souza, P, Adams, DR, Casasnovas, C, Rehm, HL, Mefford, HC, González Gutierrez-Solana, L, Brusco, A, Koenig, M, Macaya, A & Pujol, A 2021, 'Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy', Brain, vol. 144, no. 9, pp. 2659-2669. https://doi.org/10.1093/brain/awab124

TY - JOUR

T1 - Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

AU - Verdura, Edgard

AU - Rodríguez-Palmero, Agustí

AU - Vélez-Santamaria, Valentina

AU - Planas-Serra, Laura

AU - de La Calle, Irene

AU - Raspall-Chaure, Miquel

AU - Roubertie, Agathe

AU - Benkirane, Mehdi

AU - Saettini, Francesco

AU - Pavinato, Lisa

AU - Mandrile, Giorgia

AU - O’Leary, Melanie

AU - O’Heir, Emily

AU - Barredo, Estibaliz

AU - Chacón, Almudena

AU - Michaud, Vincent

AU - Goizet, Cyril

AU - Ruiz, Montserrat

AU - Schlüter, Agatha

AU - Rouvet, Isabelle

AU - Sala-Coromina, Julia

AU - Fossati, Chiara

AU - Iascone, Maria

AU - Canonico, Francesco

AU - Marcé-Grau, Anna

AU - de Souza, Precilla

AU - Adams, David R

AU - Casasnovas, Carlos

AU - Rehm, Heidi L

AU - Mefford, Heather C

AU - González Gutierrez-Solana, Luis

AU - Brusco, Alfredo

AU - Koenig, Michel

AU - Macaya, Alfons

AU - Pujol, Aurora

PY - 2021/10/21

Y1 - 2021/10/21

U2 - 10.1093/brain/awab124

DO - 10.1093/brain/awab124

M3 - Article

SN - 0006-8950

VL - 144

SP - 2659

EP - 2669

JO - Brain

JF - Brain

IS - 9

ER -