L. Villard

A. Biraben, L. Valton, A. Vermersch, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

E. Bertini, M. Baulac, C. Fallet-Bianco, 2010, Brain : a journal of neurology.

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

J. Roux, L. Villard, L. Maldergem, 2009, Gene expression patterns : GEP.

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

J. Roux, L. Villard, Emmanuelle Dura, 2008, Brain Research.

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

J. Roux, L. Villard, Nicolas Panayotis, 2011, Behavioural Brain Research.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

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

J. Gécz, M. Mattéi, C. Schwartz, 2002, Journal of medical genetics.

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

J. Gécz, A. Toutain, C. Houdayer, 1996, American Journal of Human Genetics.

XNP mutation in a large family with Juberg-Marsidi syndrome

A. Munnich, S. Lyonnet, L. Villard, 1996, Nature Genetics.

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

S. Timsit, M. Khrestchatisky, L. Villard, 1998, Human molecular genetics.

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

L. Villard, M. Fontès, 2002, European Journal of Human Genetics.

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.

J. Millán, C. Orellana, F. Martínez, 1999, American journal of human genetics.

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

D. Higgs, R. Gibbons, L. Villard, 1995, Cell.

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

C. Schwartz, F. Abidi, L. Villard, 2000, American journal of medical genetics.

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

J. Gécz, L. Adès, L. Villard, 2000, American journal of medical genetics.

Carpenter-Waziri syndrome results from a mutation in XNP.

C. Schwartz, F. Abidi, L. Villard, 1999, American journal of medical genetics.

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

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia

D. Lacombe, L. Villard, M. Fontès, 1996, European journal of human genetics : EJHG.

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

J. Gécz, P. Millasseau, M. Khrestchatisky, 1994, Human molecular genetics.

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

J. Gécz, P. Millasseau, L. Villard, 1993, Human molecular genetics.

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

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

Faculty Opinions recommendation of De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

L. Villard, 2014 .

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

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

J. Thevenon, R. Nabbout, D. Ville, 2022, European journal of medical genetics.

retardation2.3) and non-syndromic mental a female patient with an X;autosome translocation ) gene in ZNF741 ( KLF8 Abnormal expression of the

J. Gécz, C. Schwartz, M. Mattei, 2008 .

Epilepsy in Rett syndrome—Lessons from the Rett networked database

Rachel S. Levy-Drummer, A. Vignoli, A. Clarke, 2015, Epilepsia.

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

J. Gécz, C. Schwartz, M. Mattei, 2004, Journal of Medical Genetics.

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

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

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

S. Julia, A. Afenjar, O. Dulac, 2019, Epilepsia.

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

B. Cogné, A. Piton, L. Villard, 2021, Journal of Medical Genetics.

Analysis of the Phenotypes in the Rett Networked Database

A. Vignoli, A. Clarke, J. Armstrong, 2019, International journal of genomics.

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

A. Vignoli, A. Clarke, J. Armstrong, 2012, Human mutation.

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

E. Chouery, A. Mégarbané, L. Villard, 2015, Molecular Cytogenetics.

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

D. Halley, W. Lissens, A. Jansen, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Time‐limited alterations in cortical activity of a knock‐in mouse model of KCNQ2‐related developmental and epileptic encephalopathy

S. Granjeaud, L. Aniksztejn, L. Villard, 2022, The Journal of physiology.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

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

C. Gunter, C. Schwartz, W. Brown, 1999, American journal of medical genetics.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

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

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation

A. Laquérriere, L. Villard, S. Moutton, 2017, Neuropathology and applied neurobiology.

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

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Spectrum of MECP2 mutations in Rett syndrome.

P. Jonveaux, J. Chelly, L. Villard, 2002, Genetic testing.

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

L. Villard, A. Moncla, C. Missirian, 2002, European Journal of Human Genetics.

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease

N. Lévy, J. Chelly, M. Anvret, 2001, Journal of medical genetics.

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

J. Roux, L. Villard, 2007, Medecine sciences : M/S.

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

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

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

J. Roux, L. Villard, Emmanuelle Dura, 2008, Neuroscience Letters.

MECP2 mutations in males

L. Villard, 2007, Journal of Medical Genetics.

The incidence of Rett syndrome in France.

L. Pasquier, C. Philippe, P. Jonveaux, 2006, Pediatric neurology.

Mouse models of Kcnq2 dysfunction

J. Viemari, L. Villard, Lucile Brun, 2022, Epilepsia.

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

L. Aniksztejn, J. Devaux, L. Villard, 2016, Epilepsia.

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

E. Chouery, A. Mégarbané, A. Ravel, 2011, American journal of medical genetics. Part A.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

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

V. Trouplin, F. Brocard, L. Villard, 2020, PLoS biology.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

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

N. Philip, W. Dobyns, R. Guerrini, 2003, Journal of medical genetics.

Time-limited alterations in cortical activity of a Knock-in mice model of KCNQ2-related Developmental and Epileptic Encephalopathy

L. Aniksztejn, L. Villard, M. Milh, 2021, bioRxiv.

A KCNQ2 variant causing Early Onset Epileptic Encephalopathy increases spontaneous network-driven activity and excitability of pyramidal cells in the layer II/III and V of the motor cortex during a limited period of development

L. Aniksztejn, L. Villard, M. Milh, 2020 .

GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

J. Roux, V. Matagne, L. Villard, 2014, PloS one.

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

L. Swanson, S. Srivastava, E. Bedoukian, 2021, Brain sciences.

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

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

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

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Direct cDNA Selection Using Human and Mouse cDNAs: Application to Xq13.3 Chromosomal Region

J. Gécz, L. Villard, M. Fontès, 1994 .

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

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

P. Jonveaux, J. Chelly, A. Arzimanoglou, 2000, Human molecular genetics.

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

D. Ville, L. Villard, M. Milh, 2015, Epilepsy Research.

Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy

F. Benfenati, F. Zara, R. Nabbout, 2013, Human mutation.

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

J. Roux, V. Matagne, Yann Ehinger, 2017, Neurobiology of Disease.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

L. Villard, A. Moncla, B. Chabrol, 2010, European Journal of Human Genetics.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

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

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

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

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

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

K. Gardiner, F. Tassone, L. Villard, 1998, Gene.

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

A. Toutain, M. Raynaud, L. Villard, 1996, American journal of medical genetics.

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

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

N. Girard, L. Villard, M. Milh, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

D. Rodriguez, L. Villard, E. Apartis, 2015, Movement disorders : official journal of the Movement Disorder Society.

Rett syndrome: think outside the (skull) box

J. Roux, Emilie Borloz, L. Villard, 2021, Faculty reviews.

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 .

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

N. Philip, N. Girard, L. Villard, 2009, Journal of Medical Genetics.

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

L. Villard, B. ben Zeev, P. Cacciagli, 2020, European Journal of Human Genetics.

SYNGAP1-DEE: A visual sensitive epilepsy

R. Nabbout, A. Kaminska, B. Bernardina, 2021, Clinical Neurophysiology.

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

A. Poustka, M. Pembrey, L. Villard, 2000, American journal of medical genetics.

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

M. Patton, T. Strachan, S. Lindsay, 2002, Human molecular genetics.

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

Laurent Villard, E. Chouery, A. Mégarbané, 2015, Molecular Cytogenetics.

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

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

MECP 2 mutations in males

L. Villard, 2007 .

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

L. Pasquier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

L. Villard, F. Molinari, S. Gorokhova, 2023, Journal of Medical Genetics.

Rett syndrome from bench to bedside: recent advances

J. Roux, V. Matagne, Yann Ehinger, 2018, F1000Research.

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

R. Stevenson, C. Schwartz, M. Friez, 2000 .

Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes.

K. Gardiner, F. Tassone, L. Villard, 1999, Gene.

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

J. Roux, L. Villard, Nicolas Panayotis, 2011, BMC Neuroscience.

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

J. Roux, L. Villard, Nicolas Panayotis, 2011, Neurobiology of Disease.

Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

Laurent Villard, Jan-Marino Ramirez, Jean-Christophe Roux, 2005, The Journal of Neuroscience.

Two affected boys in a Rett syndrome family

J. Chelly, L. Villard, M. Tardieu, 2000, Neurology.

Neurobehavioral Testing of Mouse Models of Rett Syndrome

J. Roux, L. Villard, 2015 .

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

J. Roux, L. Villard, A. Moncla, 2007, The European journal of neuroscience.

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

F. Saudou, J. Roux, L. Villard, 2012, Neurobiology of Disease.

Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice

J. Roux, L. Villard, Nicolas Panayotis, 2009, Journal of neuroscience research.

Metabolic Fingerprints of Altered Brain Growth, Osmoregulation and Neurotransmission in a Rett Syndrome Model

P. Cozzone, L. Villard, A. Viola, 2007, PloS one.

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

S. Confort-Gouny, P. Cozzone, Y. le Fur, 2006, Biochemical and biophysical research communications.

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

L. Villard, L. Colleaux, M. Fontès, 1999, Gene.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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

A. Mégarbané, L. Villard, P. Cacciagli, 2009, European journal of medical genetics.

Use of interspersed repetitive sequences-PCR products for cDNA selection

L. Villard, L. Colleaux, M. Fontès, 1995, Mammalian Genome.

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

L. Villard, J. Ewbank, M. Fontès, 1999, Gene.

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

J. Gécz, A. Monaco, Y. Ishikawa-Brush, 1995, Genomics.

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

B. Yalcin, P. Lenck-Santini, J. Roux, 2020, Epilepsia.

Transfusion autologue programmee en obstetrique

L. Villard, 1989 .

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

E. Buhler, L. Villard, M. Haddad, 2015, Molecular Neurobiology.

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

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

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.

L. Villard, M. Milh, N. Villeneuve, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

L. Villard, M. Milh, N. Villeneuve, 2016, Revue neurologique.

Faculty Opinions recommendation of Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

L. Villard, 2017 .

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

E. Chouery, A. Mégarbané, N. Lévy, 2011, American journal of medical genetics. Part A.

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

C. Martin, J. Graham, R. Winter, 2002, American journal of human genetics.

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

L. Villard, F. Kammoun, F. Fakhfakh, 2021, Orphanet Journal of Rare Diseases.

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

D. Figarella-Branger, N. Lévy, J. Chelly, 2000, European Journal of Human Genetics.

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.

P. Clark, L. Villard, C. Kinnon, 1994, Journal of medical genetics.

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

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene?

G. Sutherland, L. Villard, E. Woollatt, 2004, Hormone Research in Paediatrics.

J. Gécz, A. Munnich, C. Moraine, 1999, Journal of medical genetics.

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

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE

Emilie Borloz, L. Villard, M. Felix, 2023, Epilepsy Research.

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

K. Gardiner, F. Tassone, L. Villard, 1997, Somatic cell and molecular genetics.

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

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

A. Toutain, L. Villard, N. Ronce, 1997, American journal of human genetics.

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

J. Roux, V. Matagne, Emilie Borloz, 2021, International journal of molecular sciences.

It takes two to tango: M-current swings with the persistent sodium current to set the speed of locomotion

F. Brocard, L. Villard, C. Brocard, 2020, bioRxiv.

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

N. Philip, N. Girard, M. Carlier, 2005, American journal of medical genetics. Part A.

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

J. Roux, L. Villard, Nicolas Panayotis, 2011 .

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

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

Faculty of 1000 evaluation for Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene.

L. Villard, 2018 .

Creation Date : October 2002 Update : August 2004 Scientific

G. Ponsot, L. Villard, 2004 .

Effect of desipramine on patients with breathing disorders in RETT syndrome

O. Blin, L. Vallée, P. Franco, 2017, Annals of clinical and translational neurology.

Faculty Opinions recommendation of A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.

L. Villard, 2013 .

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

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

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

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

G. Daquin, L. Villard, F. Molinari, 2023, Epilepsia.

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

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

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

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.