E. Scalais

发表

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease*

M. Topf, R. Shiang, A. Manzur, 2012, The Journal of Biological Chemistry.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

Adaptation in Neonatology of the Once-Daily Concept of Aminoglycoside Administration: Evaluation of a Dosing Chart for Amikacin in an Intensive Care Unit

P. Wallemacq, J. Langhendries, M. Kalenga, 1998, Neonatology.

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

J. Lynch, R. Harvey, Xiumin Chen, 2022, Frontiers in Molecular Neuroscience.

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

C. de Beaufort, T. K. van den Berg, T. Kuijpers, 2013, Blood.

Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function

Y. Crow, W. Dobyns, A. M. de Noordhout, 2018, Human mutation.

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).

S. Seneca, L. de Meirleir, A. Ribes, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

V. Tiranti, R. Rodenburg, M. Schuelke, 2016, EMBO molecular medicine.

Running title: CARD9 deficiency in neutrophils

T. Kuijpers, H. Janssen, A. Tool, 2016 .

Efficacy of high dose steroid therapy in children with severe acute transverse myelitis

M. Tardieu, P. Landrieu, C. Nuttin, 2001, Journal of neurology, neurosurgery, and psychiatry.

Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

S. Seneca, D. Matthys, W. Lissens, 2006, Pediatric Research.

Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby

E. Scalais, M. Becker, Florence Blondel, 2022, BMJ Case Reports.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

K. Tarte, K. Devriendt, B. Gener, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

S. Seneca, L. de Meirleir, Jean-Jacques Martin, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

D. Zafeiriou, G. Uziel, M. Wajner, 2009, Radiology.

Effects of ethacrynic acid in the newborn infant.

A. Papageorgiou, J. Aranda, E. Scalais, 1984, The Journal of pediatrics.

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

L. de Meirleir, K. V. van Gassen, E. Scalais, 2019, JIMD reports.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

L. de Meirleir, A. Kolivras, M. Alders, 2016, American journal of medical genetics. Part A.

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Y. Gillerot, R. Wanders, G. Mannaerts, 1992, Neuromuscular Disorders.

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

P. Kaplan, S. Dimauro, E. Schon, 1999, Nature Genetics.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

W. Dobyns, R. Guerrini, A. Jansen, 2018, European Journal of Human Genetics.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Once-a-day administration of amikacin in neonates: assessment of nephrotoxicity and ototoxicity.

P. Tulkens, A. Bernard, J. Buchet, 1993, Developmental pharmacology and therapeutics.

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children

J. Honnorat, N. Boddaert, O. Dulac, 2013, Clinical Neurophysiology.

Perisylvian dysgenesis. Clinical, EEG, MRI and glucose metabolism features in 10 patients.

T Metens, S Goldman, H B Szliwowski, 1998, Brain : a journal of neurology.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Anne de Saint Martin, A. Afenjar, P. Berquin, 2021, Epilepsy & Behavior.

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

C. de Beaufort, L. de Meirleir, J. Jaeken, 2016, Acta clinica Belgica.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Multimodality evoked potentials as a prognostic tool in term asphyxiated newborns.

J. Guérit, C. Nuttin, E. Scalais, 1998, Electroencephalography and clinical neurophysiology.

Multimodality-Evoked Potentials in Perinatal Asphyxia

E. Scalais, 1993 .

Perinatal Asphyxia

H. Schulman, E. Saliba, E. Scalais, 1993, Springer Berlin Heidelberg.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

W. Dobyns, R. Guerrini, A. Jansen, 2018, European Journal of Human Genetics.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

S. Seneca, P. Verloo, F. Eyskens, 2009, BMC clinical pathology.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection

Zhandong Liu, Ying-Wooi Wan, J. Morton, 2018, Nature Neuroscience.

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

A. Verloes, W. Rizzo, G. Piérard, 1992, Pediatric neurology.

Infantile presentation of the mitochondrial A8344G mutation

S. Seneca, L. de Meirleir, W. Lissens, 2007, European Journal of Neurology.

Familial very long chain acyl‐CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

S. Ferdinandusse, H. Waterham, L. de Meirleir, 2015, American journal of medical genetics. Part A.

Paroxysmal EEG pattern in a child with N‐methyl‐d‐aspartate receptor antibody encephalitis

A. Vincent, O. Dulac, P. Plouin, 2011, Developmental medicine and child neurology.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

F. Mataigne, E. Scalais, L. Régal, 2023, Molecular Genetics and Metabolism.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

Ying-Wooi Wan, J. Morton, X. Hou, 2019, Nature Neuroscience.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

S. Seneca, P. Verloo, F. Eyskens, 2009, BMC clinical pathology.

Invasive fungal infection and impaired neutrophil killing in human CARD 9 deficiency Running title : CARD 9 deficiency in neutrophils

T. Kuijpers, H. Janssen, A. Tool, 2013 .

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

T. Shaikh, L. de Meirleir, J. V. Van Hove, 2017, Pediatric neurology.

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

D. Zafeiriou, G. Uziel, M. Wajner, 2009, Radiology.

E Y cacy of high dose steroid therapy in children with severe acute transverse myelitis

P. Landrieu, C. Nuttin, G. Sébire, 2001 .

EYcacy of high dose steroid therapy in children with severe acute transverse myelitis

P. Landrieu, C. Nuttin, G. Sébire, 2001 .

Efficacy of high dose steroid therapy in children with severe acute transverse myelitis

M. Tardieu, P. Landrieu, C. Nuttin, 2001, Journal of neurology, neurosurgery, and psychiatry.

NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection

Zhandong, Ying-Wooi Wan, Gong, 2019 .

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Denise L. Perry, A. Vanderver, A. Serretti, 2020, Journal of Medical Genetics.