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E. Scalais · SciRah

Researcher profile · Semantic Scholar

E. Scalais

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E. Scalais — researcher profile on SciRah

h-index: 23
Works: 65
Citations: 2,933

Most-cited papers

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Lefkothea C. Papadopoulou, Carolyn M. Sue, M. Davidson, K. Tanji +17 more
1999Nature Genetics590 citations
Semantic Scholar
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M. Wolff, K. Johannesen, U. Hedrich, S. Masnada +81 more
2017Brain : a journal of neurology533 citations Open access
Semantic Scholar
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.
A. Drewniak, R. Gazendam, A. Tool, M. van Houdt +9 more
2013Blood277 citations Open access
Semantic Scholar
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
K. Johannesen, Yuan-Yuan Liu, M. Koko, C. E. Gjerulfsen +124 more
2021medRxiv132 citations Open access
Semantic Scholar
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
M. Steenweg, C. Jakobs, A. Errami, S. V. van Dooren +47 more
2010Human Mutation120 citations Open access
Semantic Scholar
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
M. Steenweg, G. Salomons, Z. Yapıcı, G. Uziel +11 more
2009Radiology101 citations
Semantic Scholar
Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease*
E. Carta, S. Chung, Victoria M. James, A. Robinson +26 more
2012Journal of Biological Chemistry81 citations Open access
Semantic Scholar
Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.
C. Gitiaux, Hina Simonnet, M. Eisermann, D. Leunen +13 more
2013Clinical Neurophysiology80 citations
Semantic Scholar
Efficacy of high dose steroid therapy in children with severe acute transverse myelitis
P. Defresne, L. Meyer, M. Tardieu, E. Scalais +6 more
2001Journal of Neurology Neurosurgery & Psychiatry80 citations Open access
Semantic Scholar
Perisylvian dysgenesis. Clinical, EEG, MRI and glucose metabolism features in 10 patients.
P. Van Bogaert, P. David, C. Gillain, D. Wikler +7 more
1998Brain : a journal of neurology70 citations Open access
Semantic Scholar
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
E. Scalais, R. Chafai, R. Van Coster, L. Bindl +8 more
2013European journal of paediatric neurology62 citations
Semantic Scholar
Adaptation in Neonatology of the Once-Daily Concept of Aminoglycoside Administration: Evaluation of a Dosing Chart for Amikacin in an Intensive Care Unit
J. Langhendries, O. Battisti, J. Bertrand, A. François +4 more
1998Neonatology62 citations
Semantic Scholar
NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection
Wen-Jun Zhou, Yanlin He, A. Rehman, Yan Kong +21 more
2019Nature Neuroscience61 citations Open access
Semantic Scholar
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
C. Bar, G. Barcia, M. Jennesson, G. Le Guyader +39 more
2019Human Mutation58 citations Open access
Semantic Scholar
Once-a-day administration of amikacin in neonates: assessment of nephrotoxicity and ototoxicity.
J. Langhendries, O. Battisti, J. Bertrand, A. François +6 more
1993Developmental Pharmacology and Therapeutics58 citations
Semantic Scholar
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
B. Thienpont, F. Béna, J. Breckpot, N. Philip +20 more
2009Journal of Medical Genetics57 citations Open access
Semantic Scholar
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
V. Faundes, S. Goh, Rhoda Akilapa, H. Bezuidenhout +40 more
2021Genetics in Medicine50 citations Open access
Semantic Scholar
Multimodality evoked potentials as a prognostic tool in term asphyxiated newborns.
E. Scalais, A. François-Adant, C. Nuttin, A. Bachy +1 more
1998Electroencephalography and Clinical Neurophysiology45 citations
Semantic Scholar
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1
Stefanie Brock, K. Stouffs, E. Scalais, M. d'Hooghe +5 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation
L. Van Maldergem, M. Espeel, R. Wanders, F. Roels +5 more
199228 citations
Semantic Scholar
Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects
B. De Paepe, J. Smet, J. Leroy, S. Seneca +8 more
2006Pediatric Research27 citations
Semantic Scholar
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
C. Bar, M. Kuchenbuch, G. Barcia, Amy L. Schneider +57 more
2020Epilepsia25 citations Open access
Semantic Scholar
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
E. Scalais, B. François, P. Schlesser, R. Stevens +8 more
2012European journal of paediatric neurology24 citations
Semantic Scholar
Paroxysmal EEG pattern in a child with N‐methyl‐d‐aspartate receptor antibody encephalitis
S. Gataullina, P. Plouin, A. Vincent, E. Scalais +2 more
2011Developmental Medicine & Child Neurology21 citations Open access
Semantic Scholar
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
C. A. Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis +9 more
2023Brain : a journal of neurology19 citations Open access
Semantic Scholar
PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
R. Zeevaert, E. Scalais, Laura Muiño Mosquera, L. D. De Meirleir +4 more
2016Acta Clinica Belgica19 citations Open access
Semantic Scholar
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders
Xiu-Min Chen, K. Wilson, N. Schaefer, Lachlan de Hayr +8 more
2022Frontiers in Molecular Neuroscience17 citations Open access
Semantic Scholar
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
F. Roels, P. Verloo, F. Eyskens, B. François +10 more
2009BMC Clinical Pathology17 citations Open access
Semantic Scholar
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
E. Scalais, Elise Osterheld, C. Weitzel, L. D. De Meirleir +11 more
2017Pediatric Neurology15 citations
Semantic Scholar
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
A. Cospain, A. Rivera-Barahona, E. Dumontet, B. Gener +28 more
2022Genetics in Medicine14 citations Open access
Semantic Scholar
Familial very long chain acyl‐CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis
E. Scalais, J. Bottu, R. Wanders, S. Ferdinandusse +2 more
2015American Journal of Medical Genetics. Part A14 citations Open access
Semantic Scholar
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
E. Scalais, Elise Osterheld, Christine Géron, Charlotte Pierron +8 more
2019JIMD Reports13 citations Open access
Semantic Scholar
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection
Wen-Jun Zhou, Yanlin He, A. Rehman, Yan Kong +21 more
2019Nature Neuroscience12 citations Open access
Semantic Scholar
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
C. Bar, D. Breuillard, M. Kuchenbuch, M. Jennesson +23 more
2021Epilepsy & Behavior11 citations Open access
Semantic Scholar
Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
L. Ruaud, G. Rice, C. Cabrol, J. Piard +15 more
2018Human Mutation11 citations Open access
Semantic Scholar
Infantile presentation of the mitochondrial A8344G mutation
E. Scalais, C. Nuttin, S. Seneca, J. Smet +8 more
2007European Journal of Neurology11 citations Open access
Semantic Scholar
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
Guillaume Jouret, S. Heide, A. Sorlin, L. Faivre +35 more
2022Clinical Genetics10 citations Open access
Semantic Scholar
Effects of ethacrynic acid in the newborn infant.
E. Scalais, A. Papageorgiou, J. Aranda
1984Jornal de Pediatria10 citations
Semantic Scholar
Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
E. Scalais, Christine Géron, Charlotte Pierron, Sandra Cardillo +4 more
2023Molecular Genetics and Metabolism8 citations
Semantic Scholar
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
S. Küry, Jin-Wei Zhang, T. Besnard, A. Caro-Llopis +76 more
2022Genetics in Medicine8 citations Open access
Semantic Scholar
Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype
E. Scalais, Anne-Catherine Connerotte, K. Despontin, A. Biver +5 more
2016American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Ontogeny of human caffeine and theophylline metabolism.
J. Aranda, E. Scalais, A. Papageorgiou, K. Beharry
1984Developmental Pharmacology and Therapeutics8 citations
Semantic Scholar
TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor
Claire Ryckmans, Mylène Donge, Antônia Marchese, Meriem Mastouri +4 more
2023American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
A. Malhotra, A. Ziegler, Li Shu, R. Perrier +27 more
2020Journal of Medical Genetics7 citations Open access
Semantic Scholar
Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.
E. Scalais, A. Verloes, J. Sacré, Ǵ. Píerard +1 more
1992Pediatric Neurology7 citations
Semantic Scholar
Effects of phenobarbital on cerebral blood flow in the newborn piglet.
E. Scalais, K. Beharry, A. Papageorgiou, M. Bureau +1 more
1992Developmental Pharmacology and Therapeutics5 citations
Semantic Scholar
Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby
Florence Blondel, Charlotte Pierron, E. Scalais, M. Becker
2022BMJ Case Reports2 citations Open access
Semantic Scholar
Corrigendum to “Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children” [Clin. Neurophysiol. 124 (2013) 2354–2361]
C. Gitiaux, Hina Simonnet, M. Eisermann, Dorothee Leunen +13 more
20141 citations
Semantic Scholar
Multimodality-Evoked Potentials in Perinatal Asphyxia
E. Scalais
19931 citations
Semantic Scholar
Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.
L. Van Maldergem, M. Espeel, R. Wanders, F. Roels +5 more
1992Neuromuscular Disorders1 citations
Semantic Scholar

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