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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
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NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
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Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE
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Time‐limited alterations in cortical activity of a knock‐in mouse model of KCNQ2 ‐related developmental and epileptic encephalopathy
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Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability
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TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
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Mouse models of Kcnq2 dysfunction
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Article dans une revue
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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
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The different clinical facets of SYN1-related neurodevelopmental disorders
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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
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Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes
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European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
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Molecular and clinical descriptions of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
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SYNGAP1-DEE: A visual sensitive epilepsy
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hal-03255478
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
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hal-03149040
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Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome
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Article dans une revue
hal-03149051
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Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome
Yann Ehinger
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Article dans une revue
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
Siddharth Srivastava
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Article dans une revue
hal-03664847
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal
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Article dans une revue
hal-03322569
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A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
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hal-03660800
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Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
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hal-03244899
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Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice
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hal-03408975
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Rett syndrome: think outside the (skull) box
Emilie Borloz
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The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review
M.-V. André
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hal-03148905
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The M-current works in tandem with the persistent sodium current to set the speed of locomotion
Jérémy Verneuil
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hal-03010771
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Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice
Yann Ehinger
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Article dans une revue
hal-02462121
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Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
Bilal El Waly
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hal-02964192
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Sébastien Cabasson
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Article dans une revue
hal-03148924
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Marie Le Roux
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Article dans une revue
hal-03477017
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The M-current works in tandem with the persistent sodium current to set the speed of locomotion
Jérémy Verneuil
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Laurent Villard
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Article dans une revue
hal-03013221
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A knock-in mouse model for KCNQ2 -related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment
Mathieu Milh
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Article dans une revue
inserm-02551507
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Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Marina Trivisano
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hal-03149027
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Analysis of the Phenotypes in the Rett Networked Database
Elisa Frullanti
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Article dans une revue
hal-02417606
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The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature
J. Piard
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European Journal of Human Genetics, 2019, 27 (1), pp.246-247
Article dans une revue
hal-02478897
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stephanie Valence
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hal-01932802
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First principles gyrokinetic analysis of electromagnetic plasma instabilities
Natalia Tronko
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Plasma Physics and Controlled Fusion, 2019, 61, pp.114002
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hal-02081110
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot
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Article dans une revue
hal-01919142
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)
Juliette Piard
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hal-02461440
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Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients
J. Piard
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European Journal of Human Genetics, 2019, 27 (1), pp.263
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hal-02461435
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’donnell-Luria
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Víctor Faundes
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Article dans une revue
hal-02417518
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette C Piard
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Lara Hawkes
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Mathieu Milh
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Laurent Villard
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Article dans une revue
hal-01932796
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Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures
Julien Denis
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Article dans une revue
hal-02417625
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Pauline Marzin
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hal-01932806
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Experimental observations of modes with geodesic acoustic character from the core to the edge in the TCV tokamak
Zhouji Huang
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hal-01874769
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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst
Cecile Mignon-Ravix
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Charlotte Sophia Kaiser
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hal-01874770
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Effect of desipramine on patients with breathing disorders in RETT syndrome
Josette Mancini
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Annals of Clinical and Translational Neurology, 2018, 5 (2), pp.118 - 127. ⟨10.1002/acn3.468⟩
Article dans une revue
hal-01718409
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria Bramswig
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hal-01932799
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
Jeremie Mortreux
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hal-01668647
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A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome
Valerie Matagne
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Ana Borges-Correia
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Article dans une revue
hal-01426386
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Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration
Nathalie Villeneuve
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Cecile Mignon-Ravix
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Brigitte Chabrol
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hal-01668649
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In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation
F. Sauvestre
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hal-01741732
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff
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hal-01668653
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
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Aude Tessier
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Article dans une revue
istex
hal-01469066
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Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
Caroline Lacoste
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Journal of Genetics, 2016, 95 (1), pp.203-208
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hal-01469051
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A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
Jérôme Devaux
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Agathe Roubertie
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Florence Molinari
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Hélène Becq
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Article dans une revue
hal-01668018
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Severe neonatal seizures: From molecular diagnosis to precision therapy?
Mathieu Milh
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Pierre Cacciagli
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Cecile Mignon-Ravix
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Catherine Badens
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Article dans une revue
hal-01668113
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
Nancy Choucair
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Joelle Abou Ghoch
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Sandra Corbani
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Pierre Cacciagli
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Article dans une revue
hal-01216061
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
Nancy Choucair
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Pierre Cacciagli
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Joelle Abou Ghoch
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Article dans une revue
hal-01203126
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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi
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Gisèle Alcaraz
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Article dans une revue
hal-01664283
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Diane Doummar
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Emmanuelle Apartis
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Laurent Villard
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Diana Rodriguez
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Article dans une revue
istex
hal-01664305
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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
Affef Abidi
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Cecile Mignon-Ravix
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Pierre Cacciagli
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Nadine Girard
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Mathieu Milh
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Article dans une revue
hal-01668016
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Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
Anne-Lise Poulat
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Dorothée Ville
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Julitta de Bellescize
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Nathalie André-Obadia
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Pierre Cacciagli
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Article dans une revue
hal-01664298
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Epilepsy in Rett syndrome—Lessons from the Rett networked database
Andreea Nissenkorn
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Ori Bondi
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Article dans une revue
hal-01664319
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Investigating profile stiffness and critical gradients in shaped TCV ă discharges using local gyrokinetic simulations of turbulent transport
Gabriele Merlo
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Olivier Sauter
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Yann Camenen
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Article dans une revue
hal-01465035
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Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex
B. El-Waly
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M.R. Haddad
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Laurent Villard
Article dans une revue
hal-01432068
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Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations
Mathieu Milh
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Caroline Lacoste
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Pierre Cacciagli
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Affef Abidi
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Julie Sutera-Sardo
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Article dans une revue
istex
hal-01664288
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio
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Gaetan Lesca
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Nathalie Villeneuve
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Caroline Lacoste
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Affef Abidi
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Article dans une revue
hal-01664313
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Julien Thévenon
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Mathieu Milh
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François Feillet
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Judith St-Onge
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Yannis Duffourd
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Article dans une revue
hal-01668025
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Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
Cecile Mignon-Ravix
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Pierre Cacciagli
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Nancy Choucair
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Cornel Popovici
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Chantal Missirian
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Article dans une revue
istex
hal-01668660
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GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice
Rita El-Khoury
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Nicolas Panayotis
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Valerie Matagne
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Adeline Ghata
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Laurent Villard
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Article dans une revue
hal-01668664
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Complete multi-field characterization of the geodesic acoustic mode in the TCV tokamak
C. A. de Meijere
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S. Coda
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Z. Huang
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Laure Vermare
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T. Vernay
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Article dans une revue
hal-01550965
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Mathieu Milh
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Nadia Boutry-Kryza
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Julie Sutera-Sardo
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Cyril Mignot
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Stéphane Auvin
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Article dans une revue
inserm-00829466
v1
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
Lionel van Maldergem
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Qingming Hou
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Vera Kalscheuer
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Marlène Rio
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Martine Doco-Fenzy
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Article dans une revue
hal-02124657
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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
Pierre Cacciagli
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Jean-Pierre Desvignes
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Nadine Girard
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Marc Délépine
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Diana Zelenika
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Article dans une revue
hal-01668667
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
Pierre Cacciagli
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Julie Sutera-Sardo
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Ana Borges-Correia
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Jean-Christophe Roux
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Imen Dorboz
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Article dans une revue
hal-01668665
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Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review
Ibrahim Tanyalçin
,
Helene Verhelst
,
Dicky J.J. Halley
,
Tim Vanderhasselt
,
Laurent Villard
et al.
Article dans une revue
istex
hal-01668668
v1
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Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy
Mathieu Milh
,
Antonio Falace
,
Nathalie Villeneuve
,
Nicola Vanni
,
Pierre Cacciagli
et al.
Article dans une revue
istex
hal-01668674
v1
|
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Un lien inattendu entre maladie de Huntington et syndrome de Rett
Jean-Christophe Roux
,
Diana Zala
,
Nicolas Panayotis
,
Ana Borges-Correia
,
Frédéric Saudou
et al.
Article dans une revue
hal-03766472
v1
|
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Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway
Jean-Christophe Roux
,
Diana Zala
,
Nicolas Panayotis
,
Ana Borges-Correia
,
Frédéric Saudou
et al.
Article dans une revue
istex
hal-01668679
v1
|
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Rett networked database: An integrated clinical and genetic network of rett syndrome databases
Elisa Grillo
,
Laurent Villard
,
Angus Clarke
,
Bruria Ben Zeev
,
Mercedes Pineda
et al.
Article dans une revue
hal-01668676
v1
|
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
Mathieu Milh
,
Nathalie Villeneuve
,
Mondher Chouchane
,
Anna Kaminska
,
Cécile Laroche
et al.
Article dans une revue
hal-01668681
v1
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
André Mégarbané
,
Eliane Chouery
,
Cecile Mignon-Ravix
,
Sandra El Sabbagh
,
Sandra Corbani
et al.
Article dans une revue
inserm-00588628
v1
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Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice
Michel Pratte
,
Nicolas Panayotis
,
Adeline Ghata
,
Laurent Villard
,
Jean-Christophe Roux
Article dans une revue
istex
hal-03766469
v1
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Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain.
Nicolas Panayotis
,
Adeline Ghata
,
Laurent Villard
,
Jean-Christophe Roux
Article dans une revue
inserm-00668420
v1
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Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse
Nicolas Panayotis
,
Michel Pratte
,
Ana Borges-Correia
,
Adeline Ghata
,
Laurent Villard
et al.
Article dans une revue
istex
hal-01668685
v1
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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Laurent Villard
,
Pierre Cacciagli
,
Marie-Reine Haddad
,
Cecile Mignon-Ravix
,
Bilal El-Waly
et al.
Article dans une revue
hal-00563106
v1
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Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
Cecile Mignon-Ravix
,
P. Cacciagli
,
B. El-Waly
,
A. Moncla
,
M. Milh
et al.
Journal of Medical Genetics, 2010, 47 (2), pp.132-6
Article dans une revue
hal-00617786
v1
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
Nadia Bahi-Buisson
,
Karine Poirier
,
Nathalie Boddaert
,
Catherine Fallet-Bianco
,
Nicola Specchio
et al.
Article dans une revue
hal-01668022
v1
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Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice
Jean-Christophe Roux
,
Nicolas Panayotis
,
Emmanuelle Dura
,
Laurent Villard
Article dans une revue
istex
hal-03766464
v1
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Carlos Cardoso
,
Amber Boys
,
Ellena Parrini
,
Cecile Mignon-Ravix
,
Jacinta M. Mcmahon
et al.
Article dans une revue
inserm-00483473
v1
|
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TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea
,
Chantal Missirian
,
Pierre Cacciagli
,
Sandra Whalen
,
Tessa Fredriksen
et al.
Article dans une revue
inserm-00325404
v1
|
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Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a rett syndrome model.
A. Viola
,
V. Saywell
,
Laurent Villard
,
P.J. Cozzone
,
N. Lutz
Article dans une revue
hal-00169296
v1
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Beyond scale separation in gyrokinetic turbulence
Xavier Garbet
,
Yanick Sarazin
,
Virginie Grandgirard
,
Guilhem Dif-Pradalier
,
Guillaume Darmet
et al.
Article dans une revue
hal-00594867
v1
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La turbulence dans les plasmas
Laurent Villard
Interstices, 2007
Article dans une revue
hal-01350180
v1
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Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism
V. Saywell
,
A. Viola
,
Sylviane Confort-Gouny
,
Y. L. Fur
,
Laurent Villard
et al.
Biochemical and Biophysical Research Communications, 2006, 340 (3), pp.776-783
Article dans une revue
hal-00092245
v1
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A drift-kinetic Semi-Lagrangian 4D code for ion turbulence simulation,
Virginie Grandgirard
,
Maura Brunetti
,
Pierre Bertrand
,
Nicolas Besse
,
Xavier Garbet
et al.
Article dans une revue
hal-00594856
v1
|
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Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.
Jean-Charles Viemari
,
Jean-Christophe Roux
,
Andrew K Tryba
,
Véronique Saywell
,
Henri Burnet
et al.
Article dans une revue
hal-00287790
v1
|
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Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
Laurent Villard
,
Nicolas Lévy
,
Fengqing Xiang
,
Arlette Kpebe
,
Véronique Labelle
et al.
Article dans une revue
hal-01593090
v1
|
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Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families
L Lossi
,
C Colleaux
,
C Chiaroni
,
F Fontes
,
Laurent Villard
et al.
Article dans une revue
istex
hal-02142330
v1
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A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
M Lévy
,
Rafaëlle Bernard-Bronsard
,
M Lossi
,
Laurence Colleaux
,
Carlos Cardoso
et al.
Article dans une revue
istex
hal-02128934
v1
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Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase
Carlos Cardoso
,
Charles Schwartz
,
Michel Fontes
,
Laurent Villard
,
Anne-Marie Lossi
et al.
Article dans une revue
istex
hal-02090255
v1
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