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Laurent Villard

Current affiliations
  • 527039
  • 92924
Researcher identifiers


During the last 25 years, my research has been focused on genetic diseases affecting the children’s brain and leading to intellectual deficiency and/or epilepsy. The team has accumulated a solid experience with motor and cognitive phenotyping in the mouse, autonomic nervous system monitoring and pre-clinical research using pharmacology or gene therapy. Two phase II clinical trials are based on our results. My team combines clinical genetics, pediatric neurology, molecular genetics, neurophysiology, molecular biology and animal behavior to perform translational research. I supervise the molecular diagnosis of epileptic patients in La Timone Children's Hospital since 2011 where I manage a cohort of >2000 patients. I have been the coordinator or an associated partner of many national and international projects (e.g. four national ANR grants, E-RARE network, FP7 ITN network, Horizon 2020 Twinning, EJP-RD 2020).


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

Najoua Biba‐maazou , Hélène Becq , Emilie Pallesi‐pocachard , Stefania Sarno , Samuel Granjeaud
The Journal of Physiology, inPress, ⟨10.1113/JP282536⟩
Journal articles hal-03654270v1
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NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Cécile Mignon‐ravix , Florence Riccardi , Géraldine Daquin , Pierre Cacciagli , Sylvie Lamoureux‐toth
Epilepsia, 2023, ⟨10.1111/epi.17603⟩
Journal articles hal-04072437v1

The different clinical facets of SYN1-related neurodevelopmental disorders

Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet
Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.1019715⟩
Journal articles hal-03949582v1

Mouse models of Kcnq2 dysfunction

Lucile Brun , Jean‐charles Viemari , Laurent Villard
Epilepsia, 2022, 63 (11), pp.2813-2826. ⟨10.1111/epi.17405⟩
Journal articles hal-03853171v1

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu
European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306
Journal articles hal-03678838v1
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Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

Pierre‐yves Maillard , Sarah Baer , Élise Schaefer , Béatrice Desnous , Nathalie Villeneuve
Epilepsia, In press, 63 (10), pp.2519-2533. ⟨10.1111/epi.17336⟩
Journal articles hal-03700622v1
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Elsa Leitão , Christopher Schröder , Ilaria Parenti , Carine Dalle , Agnès Rastetter
Nature Communications, 2022, 13 (1), pp.6570. ⟨10.1038/s41467-022-34264-y⟩
Journal articles hal-03959490v1
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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

Lionel Arnaud , Marie-Thérèse Abi Warde , Giulia Barcia , Julitta de Bellescize , Nicolas Chatron
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩
Journal articles hal-03949438v1

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

Stefanie Brock , Annie Laquerriere , Florent Marguet , Scott Myers , Yuan Hongjie
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
Journal articles hal-03949474v1

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

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Marie Le Roux , Magalie Barth , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
Journal articles hal-03662709v1

Rett syndrome: think outside the (skull) box

Emilie Borloz , Laurent Villard , Jean-Christophe Roux
Faculty Reviews, 2021, 10, ⟨10.12703/r/10-59⟩
Journal articles hal-03664868v1
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Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice

Marie-Solenne Felix , Emilie Borloz , Khaled Metwally , Ambre Dauba , Benoit Larrat
Pharmaceutics, 2021, 13, ⟨10.3390/pharmaceutics13081245⟩
Journal articles hal-03408975v1
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Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome

Valerie Matagne , Emilie Borloz , Yann Ehinger , Lydia Saidi , Laurent Villard
Neurobiology of Disease, 2021, 149, pp.105235. ⟨10.1016/j.nbd.2020.105235⟩
Journal articles hal-03149051v1
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Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

Yann Ehinger , Valerie Matagne , Valérie Cunin , Emilie Borloz , Michel Seve
International Journal of Molecular Sciences, 2021, 22 (9), pp.4316. ⟨10.3390/ijms22094316⟩
Journal articles hal-03662325v1
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Siddharth Srivastava , Erica Macke , Lindsay Swanson , David Coulter , Eric Klee
Brain Sciences, 2021, 11 (7), pp.931. ⟨10.3390/brainsci11070931⟩
Journal articles hal-03664847v1
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal , Reza Maroofian , Büşranur Çavdarli , Florence Riccardi , Michael Field
Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01260-4⟩
Journal articles hal-03322569v1

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

Marwa Ben Jdila , Cécile Mignon-Ravix , Sihem Ben Ncir , Fatma Kammoun , Faiza Fakhfakh
Orphanet Journal of Rare Diseases, 2021, 16 (1), pp.317. ⟨10.1186/s13023-021-01951-w⟩
Journal articles hal-03660800v1
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The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review

M.-V. André , Pierre Cacciagli , A. Cano , L. Vaugier , M. Roussel
Archives de Pédiatrie, 2021, 28 (1), pp.87-92. ⟨10.1016/j.arcped.2020.10.015⟩
Journal articles hal-03148905v1
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Sandra Whalen , Marie Shaw , Cyril Mignot , Delphine Héron , Sandra Chantot Bastaraud
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Journal articles hal-03149040v1
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SYNGAP1-DEE: A visual sensitive epilepsy

Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia
Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩
Journal articles hal-03255478v1
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Marie Le Roux , Julien van Gils , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby
European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩
Journal articles hal-03477017v1
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A knock-in mouse model for KCNQ2 -related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

Mathieu Milh , Pierre L. Roubertoux , Najoua Biba , Julie Chavany , Adeline Ghata
Epilepsia, 2020, 61 (5), pp.868-878. ⟨10.1111/epi.16494⟩
Journal articles inserm-02551507v1
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Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Marina Trivisano , Alessandro Ferretti , Elizabeth Bebin , Linda Huh , Gaetan Lesca
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Journal articles hal-03149027v1

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

Yann Ehinger , Julie Bruyère Bruyere , Nicolas Panayotis , Yah‐se Abada , Emilie Borloz
EMBO Molecular Medicine, 2020, 12 (2), pp.e10889. ⟨10.15252/emmm.201910889⟩
Journal articles hal-02462121v1
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The M-current works in tandem with the persistent sodium current to set the speed of locomotion

Jérémy Verneuil , Cécile Brocard , Virginie Trouplin , Laurent Villard , Julie Peyronnet-Roux
PLoS Biology, 2020, 18 (11), pp.e3000738. ⟨10.1371/journal.pbio.3000738⟩
Journal articles hal-03010771v1
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Sébastien Cabasson , Julien van Gils , Frédéric Villéga , Marie-Thérèse Abi-Warde , Giulia Barcia
European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩
Journal articles hal-03148924v1
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The M-current works in tandem with the persistent sodium current to set the speed of locomotion

Jérémy Verneuil , Cécile Brocard , Virginie Trouplin , Laurent Villard , Julie Peyronnet-Roux
PLoS Biology, 2020, 18 (11), pp.e3000738. ⟨10.1371/journal.pbio.3000738⟩
Journal articles hal-03013221v1
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Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice

Yann Ehinger , Julie Bruyère , Nicolas Panayotis , Yah‐se Abada , Emilie Borloz
EMBO Molecular Medicine, 2020, 12 (2), ⟨10.15252/emmm.201910889⟩
Journal articles hal-03035540v1
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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 , Cecile Mignon-Ravix , Pierre Cacciagli , Emmanuelle Buhler , Bruria Ben Zeev
European Journal of Human Genetics, 2020, 28, pp.1703-1713. ⟨10.1038/s41431-020-0659-z⟩
Journal articles hal-02964192v1

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

Cyril Mignot , Aoife C. Mcmahon , Claire Bar , Philippe M. Campeau , Claire Davidson
Genetics in Medicine, 2019, 21 (4), pp.837-849. ⟨10.1038/s41436-018-0268-1⟩
Journal articles hal-02478899v1

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste
Epilepsia, 2019, ⟨10.1111/epi.14727⟩
Journal articles hal-02417625v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
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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 , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Journal articles hal-01932796v1

First principles gyrokinetic analysis of electromagnetic plasma instabilities

Natalia Tronko , Alberto Bottino , Cristel Chandre , Eric Sonnendrücker , Emmanuel Lanti
Plasma Physics and Controlled Fusion, 2019, 61, pp.114002
Journal articles hal-02081110v1

The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature

J. Piard , L. Hawkes , M. Milh , Laurent Villard , R. Borgatti
European Journal of Human Genetics, 2019, 27 (1), pp.246-247
Journal articles hal-02478897v1

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 , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Journal articles hal-01932802v1

Analysis of the Phenotypes in the Rett Networked Database

Elisa Frullanti , Filomena Papa , Elisa Grillo , Angus Clarke , Bruria Ben-Zeev
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
Journal articles hal-02417606v1

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

Anne O’donnell-Luria , Lynn Pais , Víctor Faundes , Jordan Wood , Abigail Sveden
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Journal articles hal-02417518v1

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 , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti
Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩
Journal articles hal-02461440v1

Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients

J. Piard , D. J. Moris-Rosendahl , A. Putoux , G. Delplancq , C. Cabrol
European Journal of Human Genetics, 2019, 27 (1), pp.263
Journal articles hal-02461435v1
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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 , Tiffany Busa , Dominique P. Germain , Gwenaël Nadeau , Jacques Puechberty
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
Journal articles hal-01668647v1

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

Pauline Marzin , Cyril Mignot , Nathalie Dorison , Louis Claude Dufour , Dorothée Ville
Brain and Development, 2018, 40 (9), pp.768 - 774. ⟨10.1016/j.braindev.2018.05.008⟩
Journal articles hal-01932806v1

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

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1
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Effect of desipramine on patients with breathing disorders in RETT syndrome

Josette Mancini , Jean-Christophe Dubus , Elisabeth Jouve , Jean-Christophe Roux , Patricia Franco
Annals of Clinical and Translational Neurology, 2018, 5 (2), pp.118 - 127. ⟨10.1002/acn3.468⟩
Journal articles hal-01718409v1

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

Cecile Mignon-Ravix , Mathieu Milh , Charlotte Sophia Kaiser , Jens Daniel , Florence Riccardi
Human Mutation, 2018, 39 (7), pp.934-938. ⟨10.1002/humu.23534⟩
Journal articles hal-01874770v1

Experimental observations of modes with geodesic acoustic character from the core to the edge in the TCV tokamak

Zhouji Huang , Stefano Coda , Gabriele Merlo , Stephan Brunner , Laurent Villard
Plasma Physics and Controlled Fusion, 2018, 60 (3), ⟨10.1088/1361-6587/aaa71d⟩
Journal articles hal-01874769v1

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

F. Sauvestre , S. Moutton , Catherine Badens , B. Broussin , D. Carles
Neuropathology and Applied Neurobiology, 2017, 43 (7), pp.631-635. ⟨10.1111/nan.12409⟩
Journal articles hal-01741732v1

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 , Affef Abidi , Pierre Cacciagli , Cecile Mignon-Ravix , Brigitte Chabrol
European Journal of Paediatric Neurology, 2017, 21 (5), pp.783 - 786. ⟨10.1016/j.ejpn.2017.04.001⟩
Journal articles hal-01668649v1
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A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Valerie Matagne , Yann Ehinger , Lydia Saidi , Ana Borges-Correia , Martine Barkats
Neurobiology of Disease, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩
Journal articles hal-01426386v1
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff , Katrine M. Johannesen , Ulrike B. S. Hedrich , Silvia Masnada , Guido Rubboli
Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Journal articles hal-01668653v1
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Severe neonatal seizures: From molecular diagnosis to precision therapy?

Mathieu Milh , Pierre Cacciagli , Cecile Mignon-Ravix , Catherine Badens , A. Lepine
Revue Neurologique, 2016, 172 (3), pp.171-173. ⟨10.1016/j.neurol.2016.02.005⟩
Journal articles hal-01668113v1
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A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

Jérôme Devaux , Affef Abidi , Agathe Roubertie , Florence Molinari , Hélène Becq
Epilepsia, 2016, 57 (5), pp.e87 - e93. ⟨10.1111/epi.13366⟩
Journal articles hal-01668018v1

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

Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard
Journal of Genetics, 2016, 95 (1), pp.203-208
Journal articles hal-01469051v1

Linear multispecies gyrokinetic flux tube benchmarks in shaped tokamak ă plasmas

W. Dorland , E. Fable , T. Goerler , F. Ă Jenko , A. G. Peeters
Physics of Plasmas, 2016, 23 (3), ⟨10.1063/1.4942539⟩
Journal articles hal-01465029v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles hal-01469066v1

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

B. El-Waly , E Buhler , M.R. Haddad , Laurent Villard
Molecular Neurobiology, 2015, 52 (1), pp.771-82. ⟨10.1007/s12035-014-8919-y⟩
Journal articles hal-01432068v1
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

Nancy Choucair , Joelle Abou Ghoch , Sandra Corbani , Pierre Cacciagli , Cecile Mignon-Ravix
Molecular Cytogenetics, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩
Journal articles hal-01216061v1

Investigating profile stiffness and critical gradients in shaped TCV ă discharges using local gyrokinetic simulations of turbulent transport

G. Merlo , Stephan Brunner , Olivier Sauter , Y. Camenen , T. Ă Goerler
Plasma Physics and Controlled Fusion, 2015, 57 (5), ⟨10.1088/0741-3335/57/5/054010⟩
Journal articles hal-01465035v1
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Epilepsy in Rett syndrome—Lessons from the Rett networked database

Andreea Nissenkorn , Rachel S. Levy-Drummer , Ori Bondi , Alessandra Renieri , Laurent Villard
Epilepsia, 2015, 56 (4), pp.569 - 576. ⟨10.1111/epi.12941⟩
Journal articles hal-01664319v1
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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Affef Abidi , Cecile Mignon-Ravix , Pierre Cacciagli , Nadine Girard , Mathieu Milh
European Journal of Human Genetics, 2015, 24 (4), pp.615 - 618. ⟨10.1038/ejhg.2015.159⟩
Journal articles hal-01668016v1
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Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations

Mathieu Milh , Caroline Lacoste , Pierre Cacciagli , Affef Abidi , Julie Sutera-Sardo
American Journal of Medical Genetics Part A, 2015, 167 (10), pp.2314-2318. ⟨10.1002/ajmg.a.37152⟩
Journal articles hal-01664288v1
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Chloé Di Meglio , Gaetan Lesca , Nathalie Villeneuve , Caroline Lacoste , Affef Abidi
Epilepsia, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩
Journal articles hal-01664313v1
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Nancy Choucair , Cecile Mignon-Ravix , Pierre Cacciagli , Joelle Abou Ghoch , Ali Fawaz
Molecular Cytogenetics, 2015, ⟨10.1186/s13039-015-0149-0⟩
Journal articles hal-01203126v1
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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 , Jérôme Devaux , Florence Molinari , Gisèle Alcaraz , François-Xavier Michon
Neurobiology of Disease, 2015, 80, pp.80 - 92. ⟨10.1016/j.nbd.2015.04.017⟩
Journal articles hal-01664283v1
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Diane Doummar , Cyril Mignot , Emmanuelle Apartis , Laurent Villard , Diana Rodriguez
Movement Disorders, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩
Journal articles hal-01664305v1
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Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Anne-Lise Poulat , Dorothée Ville , Julitta de Bellescize , Nathalie André-Obadia , Pierre Cacciagli
Epilepsy Research, 2015, 111, pp.72 - 77. ⟨10.1016/j.eplepsyres.2015.01.008⟩
Journal articles hal-01664298v1

Complete multi-field characterization of the geodesic acoustic mode in the TCV tokamak

C. A. de Meijere , S. Coda , Z. Huang , Laure Vermare , T. Vernay
Plasma Physics and Controlled Fusion, 2014, 56 (7), pp.072001. ⟨10.1088/0741-3335/56/7/072001⟩
Journal articles hal-01550965v1
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon , Mathieu Milh , François Feillet , Judith St-Onge , Yannis Duffourd
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Journal articles hal-01668025v1

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 , Pierre Cacciagli , Nancy Choucair , Cornel Popovici , Chantal Missirian
American Journal of Medical Genetics Part A, 2014, 164 (8), pp.1991 - 1997. ⟨10.1002/ajmg.a.36602⟩
Journal articles hal-01668660v1
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GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

Rita El-Khoury , Nicolas Panayotis , Valerie Matagne , Adeline Ghata , Laurent Villard
PLoS ONE, 2014, 9 (3), pp.e92169. ⟨10.1371/journal.pone.0092169⟩
Journal articles hal-01668664v1

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
European Journal of Paediatric Neurology, 2013, 17 (6), pp.666 - 670. ⟨10.1016/j.ejpn.2013.05.002⟩
Journal articles hal-01668668v1

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
Human Mutation, 2013, 34 (6), pp.869 - 872. ⟨10.1002/humu.22318⟩
Journal articles hal-01668674v1
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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 , Julie Sutera-Sardo , Ana Borges-Correia , Jean-Christophe Roux , Imen Dorboz
American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
Journal articles hal-01668665v1

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

Lionel van Maldergem , Qingming Hou , Vera Kalscheuer , Marlène Rio , Martine Doco-Fenzy
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Journal articles hal-02124657v1
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Mathieu Milh , Nadia Boutry-Kryza , Julie Sutera-Sardo , Cyril Mignot , Stéphane Auvin
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.80. ⟨10.1186/1750-1172-8-80⟩
Journal articles inserm-00829466v1

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Pierre Cacciagli , Jean-Pierre Desvignes , Nadine Girard , Marc Délépine , Diana Zelenika
European Journal of Human Genetics, 2013, 22 (3), pp.363 - 368. ⟨10.1038/ejhg.2013.135⟩
Journal articles hal-01668667v1

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

Elisa Grillo , Laurent Villard , Angus Clarke , Bruria Ben Zeev , Mercedes Pineda
Human Mutation, 2012, 33 (7), pp.1031 - 1036. ⟨10.1002/humu.22072⟩
Journal articles hal-01668676v1

Un lien inattendu entre maladie de Huntington et syndrome de Rett

Jean-Christophe Roux , Diana Zala , Nicolas Panayotis , Ana Borges-Correia , Frédéric Saudou
Médecine/Sciences, 2012, 28 (1), pp.44-46. ⟨10.1051/medsci/2012281016⟩
Journal articles hal-03766472v1

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

Jean-Christophe Roux , Diana Zala , Nicolas Panayotis , Ana Borges-Correia , Frédéric Saudou
Neurobiology of Disease, 2012, 45 (2), pp.786 - 795. ⟨10.1016/j.nbd.2011.11.002⟩
Journal articles hal-01668679v1

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

Mathieu Milh , Nathalie Villeneuve , Mondher Chouchane , Anna Kaminska , Cécile Laroche
Epilepsia, 2011, 52 (10), pp.1828 - 1834. ⟨10.1111/j.1528-1167.2011.03181.x⟩
Journal articles hal-01668681v1

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

Michel Pratte , Nicolas Panayotis , Adeline Ghata , Laurent Villard , Jean-Christophe Roux
Behavioural Brain Research, 2011, 216 (1), pp.313-320. ⟨10.1016/j.bbr.2010.08.011⟩
Journal articles hal-03766469v1

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
American Journal of Medical Genetics Part A, 2011, 155 (5), pp.1147-51. ⟨10.1002/ajmg.a.33938⟩
Journal articles inserm-00588628v1

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
Neurobiology of Disease, 2011, 41 (2), pp.385 - 397. ⟨10.1016/j.nbd.2010.10.006⟩
Journal articles hal-01668685v1
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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
BMC Neuroscience, 2011, 12 (1), pp.47. ⟨10.1186/1471-2202-12-47⟩
Journal articles inserm-00668420v1

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
Journal of Medical Genetics, 2010, 47 (2), pp.132-6
Journal articles hal-00617786v1
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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
Brain - A Journal of Neurology , 2010, 133 (11), pp.3194 - 3209. ⟨10.1093/brain/awq259⟩
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
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.126⟩
Journal articles hal-00563106v1

Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice

Jean-Christophe Roux , Nicolas Panayotis , Emmanuelle Dura , Laurent Villard
Journal of Neuroscience Research, 2009, pp.n/a-n/a. ⟨10.1002/jnr.22312⟩
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
Neurology, 2009, 72 (9), pp.784-92. ⟨10.1212/01.wnl.0000336339.08878.2d⟩
Journal articles inserm-00483473v1

TCF4 deletions in Pitt-Hopkins Syndrome.

Irina Giurgea , Chantal Missirian , Pierre Cacciagli , Sandra Whalen , Tessa Fredriksen
Human Mutation, 2008, 29 (11), pp.E242-51. ⟨10.1002/humu.20859⟩
Journal articles inserm-00325404v1

Beyond scale separation in gyrokinetic turbulence

Xavier Garbet , Yanick Sarazin , Virginie Grandgirard , Guilhem Dif-Pradalier , Guillaume Darmet
Nuclear Fusion, 2007, 47 (9), pp.1206-1212. ⟨10.1088/0029-5515/47/9/017⟩
Journal articles hal-00594867v1

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
PLoS ONE, 2007, 2 (1), pp.e157. ⟨10.1371/journal.pone.0000157⟩
Journal articles hal-00169296v1

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

A drift-kinetic Semi-Lagrangian 4D code for ion turbulence simulation,

Virginie Grandgirard , Maura Brunetti , Pierre Bertrand , Nicolas Besse , Xavier Garbet
Journal of Computational Physics, 2006, 217, pp.395-423. ⟨10.1016/⟩
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 of Neuroscience, 2005, 25 (50), pp.11521-30. ⟨10.1523/JNEUROSCI.4373-05.2005⟩
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 of Medical Genetics, 2001, 38 (7), pp.435-442. ⟨10.1136/jmg.38.7.435⟩
Journal articles hal-01593090v1

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
American Journal of Medical Genetics, 2000, 94 (5), pp.386-388. ⟨10.1002/1096-8628(20001023)94:5<386::AID-AJMG8>3.0.CO;2-1⟩
Journal articles hal-02142330v1

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

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
Genomics, 1997, 43 (2), pp.149-155. ⟨10.1006/geno.1997.4793⟩
Journal articles hal-02090255v1
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EUROfusion Integrated Modelling (EU-IM) capabilities and selected physics applications

Gloria Luisa Falchetto , Markus I. Airila , A. Alberto Morillas , E. Andersson Sundén , Thierry Aniel
2016 - 26th IAEA Fusion Energy Conference, Oct 2016, Kyoto, Japan. pp.1-10
Conference papers hal-01656559v1

How should we define, construct and compare clusters in emerging S&T fields ? The case of nanotechnologies

Aurélie Delemarle , Bernard Kahane , Philippe Larédo , Laurent Villard
3rd European Network of Indicators Designers Conference on "STI Indicators for Policymaking and Strategic Decision", Mar 2010, Paris, France
Conference papers hal-00588200v1