Publications by authors named "Emmanuel Scalais"

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Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, .
Joseph R Figura, Presley Roberts, Riley Sawka, Maci Chambers, Marcelo Claudio, Emmanuel Scalais

Genes (Basel)· October 2025

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Abdominal Pain Mimicking a Neurological Disorder: A Case Report of Spinal Cavernous Malformation in a Pediatric Patient.
Eliézer Kasriel, Hans Boecher-Schwarz, Emmanuel Scalais

Cureus· August 2024

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TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.
Claire Ryckmans, Mylène Donge, Antonia Marchèse, Meriem Mastouri, Caroline Thomee, Emmanuel Scalais

Am J Med Genet A· May 2024

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Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Emmanuel Scalais

Brain· March 2024

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Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Emmanuel Scalais, Christine Geron, Charlotte Pierron, Sandra Cardillo, Vincent Schlesser

Mol Genet Metab· November 2023

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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Emmanuel Scalais

Genet Med· December 2022

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Emmanuel Scalais

Brain· September 2022

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Emmanuel Scalais

Genet Med· September 2022

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Emmanuel Scalais

Clin Genet· August 2022

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Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby.
Florence Blondel, Charlotte Pierron, Emmanuel Scalais, Marianne Becker

BMJ Case Rep· August 2022

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Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.
Xiumin Chen, Katie A Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais

Front Mol Neurosci· April 2022

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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Claire Bar, Delphine Breuillard, Mathieu Kuchenbuch, Mélanie Jennesson, Gwenaël Le Guyader, Emmanuel Scalais

Epilepsy Behav· January 2022

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De novo missense variants in are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Emmanuel Scalais

J Med Genet· October 2021

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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T Bjornsson, Emmanuel Scalais

Genet Med· July 2021

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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Emmanuel Scalais

Epilepsia· November 2020

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider, Emmanuel Scalais

Hum Mutat· January 2020

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Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.
Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Emmanuel Scalais

Nat Neurosci· September 2019

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai

JIMD Rep· September 2019

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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.
Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Emmanuel Scalais

Nat Neurosci· February 2019

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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, Marc D'Hooghe, Kathelijn Keymolen

Eur J Hum Genet· August 2018

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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Emmanuel Scalais

Hum Mutat· August 2018

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X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne

Pediatr Neurol· June 2017

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Emmanuel Scalais

Brain· May 2017

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Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing-Huang Gao, Emanuele Barca, Emmanuel Scalais

EMBO Mol Med· January 2017

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PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
Renate Zeevaert, Emmanuel Scalais, Laura Muino Mosquera, Linda De Meirleir, Carine De Beaufort

Acta Clin Belg· December 2016

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