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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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First principles gyrokinetic analysis of electromagnetic plasma instabilities
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Plasma Physics and Controlled Fusion, 2019, 61, pp.114002
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European Journal of Human Genetics, 2019, 27 (1), pp.246-247
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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
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Analysis of the Phenotypes in the Rett Networked Database
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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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)
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Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
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Effect of desipramine on patients with breathing disorders in RETT syndrome
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Annals of Clinical and Translational Neurology, 2018, 5 (2), pp.118 - 127. ⟨10.1002/acn3.468⟩
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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst
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Experimental observations of modes with geodesic acoustic character from the core to the edge in the TCV tokamak
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In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation
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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
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A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Severe neonatal seizures: From molecular diagnosis to precision therapy?
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A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
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Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
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Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
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Investigating profile stiffness and critical gradients in shaped TCV ă discharges using local gyrokinetic simulations of turbulent transport
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Epilepsy in Rett syndrome—Lessons from the Rett networked database
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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
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Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
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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
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
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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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Complete multi-field characterization of the geodesic acoustic mode in the TCV tokamak
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
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Judith St-Onge
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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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Nancy Choucair
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Cornel Popovici
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Chantal Missirian
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GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice
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Adeline Ghata
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Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review
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Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy
Mathieu Milh
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Nathalie Villeneuve
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Pierre Cacciagli
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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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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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Martine Doco-Fenzy
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
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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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Nadine Girard
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Marc Délépine
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Diana Zelenika
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Rett networked database: An integrated clinical and genetic network of rett syndrome databases
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Un lien inattendu entre maladie de Huntington et syndrome de Rett
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Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
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Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice
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Adeline Ghata
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Jean-Christophe Roux
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
André Mégarbané
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Cecile Mignon-Ravix
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Sandra El Sabbagh
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Sandra Corbani
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Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse
Nicolas Panayotis
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Michel Pratte
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Ana Borges-Correia
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Adeline Ghata
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Laurent Villard
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Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain.
Nicolas Panayotis
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Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
Cecile Mignon-Ravix
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P. Cacciagli
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B. El-Waly
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A. Moncla
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M. Milh
Journal of Medical Genetics, 2010, 47 (2), pp.132-6
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
Nadia Bahi-Buisson
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Karine Poirier
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Nathalie Boddaert
,
Catherine Fallet-Bianco
,
Nicola Specchio
Journal articles
hal-01668022v1
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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
Journal articles
hal-00563106v1
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Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice
Jean-Christophe Roux
,
Nicolas Panayotis
,
Emmanuelle Dura
,
Laurent Villard
Journal articles
hal-03766464v1
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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
Journal articles
inserm-00483473v1
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TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea
,
Chantal Missirian
,
Pierre Cacciagli
,
Sandra Whalen
,
Tessa Fredriksen
Journal articles
inserm-00325404v1
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Beyond scale separation in gyrokinetic turbulence
Xavier Garbet
,
Yanick Sarazin
,
Virginie Grandgirard
,
Guilhem Dif-Pradalier
,
Guillaume Darmet
Journal articles
hal-00594867v1
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La turbulence dans les plasmas
Laurent Villard
Interstices, 2007
Journal articles
hal-01350180v1
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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
Journal articles
hal-00169296v1
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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
Biochemical and Biophysical Research Communications, 2006, 340 (3), pp.776-783
Journal articles
hal-00092245v1
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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
Journal articles
hal-00594856v1
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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
Journal articles
hal-00287790v1
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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
Journal articles
hal-01593090v1
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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
Journal articles
hal-02142330v1
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A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
M Lévy
,
Rafa�lle Bernard-Bronsard
,
M Lossi
,
Laurence Colleaux
,
Carlos Cardoso
Journal articles
hal-02128934v1
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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
Journal articles
hal-02090255v1
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