List of works by Laurent Villard

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

scientific article published on 31 March 2016

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

scientific article

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

scientific article published on 01 December 2007

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

scientific article

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

scientific article published on 02 April 2020

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

scientific article published on 17 July 2021

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

scientific article published in November 1999

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

scientific article

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

scientific article

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

scientific article published on 03 May 2018

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

scientific article published in April 2002

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

scientific article published on 04 April 2011

Analysis of pufferfish homologues of the AT-rich human APP gene

scientific article published in March 1998

Analysis of the Phenotypes in the Rett Networked Database

scientific article published on 27 March 2019

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

article

Biogenic amines in Rett syndrome: the usual suspects.

scientific article

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

scientific article published on 20 December 2005

Carpenter-Waziri syndrome results from a mutation in XNP

scientific article published on 01 July 1999

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

scientific article published on 18 April 2009

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene

scientific article published in August 1999

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

scientific article published on 26 April 2019

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

scientific article

Construction of a YAC contig spanning the Xq13.3 subband.

scientific article

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

scientific article published on 9 April 2015

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

article

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

scientific article

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

scientific article published on 09 July 2020

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

scientific article published on 26 July 2009

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

scientific article published in November 2005

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase ⬇️

scientific article (publication date: 15 July 1997)

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

scientific article

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

scientific article published on 14 October 2009

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

scientific article published in October 2018

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

scientific article published on 15 July 2015

Effect of desipramine on patients with breathing disorders in RETT syndrome. ⬇️

scientific article published on 27 December 2017

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

scientific article published in April 1999

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

scientific article

Epigenetic study of Rett's syndrome as an adequate model for autistic disorders

scientific article published in January 2005

Epilepsy in Rett syndrome--lessons from the Rett networked database

scientific article published on 19 March 2015

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

scientific article published on 19 July 2011

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

scientific article published on 29 October 2015

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

scientific article published on March 1999

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

scientific article

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

scientific article published on 16 June 2015

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

article

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

scientific article published on 12 July 2018

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

scientific article published on 14 July 2021

Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem

scientific article published on 16 August 2008

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

scientific article

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

scientific article

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

scientific article published on 4 March 2017

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

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.

scientific article published on 29 April 2017

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

scientific article published on 09 May 2019

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

scientific article published on 25 January 2015

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

scientific article published on 08 January 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

scientific article published on 01 March 2000

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

scientific article

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

article

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

scientific article published on 01 February 2000

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

scientific article published on 24 April 2013

MECP2 mutations account for most cases of typical forms of Rett syndrome.

scientific article published in May 2000

MECP2 mutations in males.

scientific article published on 9 March 2007

Map location, genomic organization and expression patterns of the human RED1 RNA editase

scientific article (publication date: March 1997)

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

scientific article published in November 2000

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

scientific journal article

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

scientific journal article

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

scientific article published on 02 June 2020

Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain

scientific article

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse ⬇️

scientific article published on October 14, 2010

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

scientific article published in August 1999

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

scientific article published on September 2013

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

scientific article published on 3 October 2010

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

scientific article

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

scientific article

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

scientific article published on 7 October 2014

Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model

scientific article published in January 2006

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

scientific article published on 2 July 2009

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

scientific article published on 12 April 2013

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

scientific article published on 10 December 2008

Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model

scientific article published in October 2007

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

scientific article published on 01 September 1993

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

scientific article published in January 2002

Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice.

scientific article published on 14 August 2010

Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice.

scientific article

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

scientific article published on 13 April 2012

Rett syndrome from bench to bedside: recent advances.

scientific article

Severe neonatal seizures: From molecular diagnosis to precision therapy?

scientific article published on 15 March 2016

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

scientific article published on 19 May 2014

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

scientific article

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

scientific article

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

scientific article published on 01 January 2006

Spectrum of MECP2 mutations in Rett syndrome

scientific article published on 01 January 2002

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

scientific article published in March 1996

TCF4 deletions in Pitt-Hopkins Syndrome.

scientific article published in November 2008

The M-current works in tandem with the persistent sodium current to set the speed of locomotion

scientific article published on 13 November 2020

The incidence of Rett syndrome in France

scientific article published on 01 May 2006

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 25 October 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

scientific article published on 29 November 2017

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene.

scientific article published in July 1999

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

scientific article published in April 2007

Two affected boys in a Rett syndrome family: clinical and molecular findings

scientific article published on 01 October 2000

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

scientific article

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse.

scientific article published on 24 September 2008

Unexpected link between Huntington disease and Rett syndrome

scientific article

Use of interspersed repetitive sequences-PCR products for cDNA selection

scientific article published on 01 September 1995

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

scientific article published on 10 May 2015

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

scientific article published on 01 July 1996

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]

scientific article published on 01 January 2002

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