LV

Laurent Villard

73 %
Libre accès
117
Documents
Affiliations actuelles
  • Marseille medical genetics - Centre de génétique médicale de Marseille (MMG)
  • Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM]

Présentation

During the last 30 years, my research has been focused on pediatric neurogenetic diseases, including intellectual deficiency and/or epilepsy. My team has accumulated a solid experience for disease gene identification/characterization, motor and cognitive phenotyping in the mouse, autonomic nervous system monitoring and pre-clinical research using pharmacology or gene therapy. We combine expertise in molecular genetics, neurophysiology, molecular biology and animal behavior to perform translational research. I supervise the molecular diagnosis of genetic epilepsies in La Timone Children's Hospital since 2011 where I manage a cohort of >4,000 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, ERDERA 2025). I am a member of the SAB of the French Rare Diseases Foundation and the president of its "models" committee. I am also a member of the SAB of the Fondation Française pour la Recherche sur les Epilepsies (FFRE). I teach human and medical genetics and I am an author of >200 publications with a h-index=45 (www.webofscience.com/wos/author/record/417503).

Publications

Publications

Deposit thumbnail

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie , Aldja Abderrahmane , Ouarda Abdous , Carine Abel , Oanez Ackermann et al.

The Lancet Regional Health - Europe, 2025, 50, pp.101183. ⟨10.1016/j.lanepe.2024.101183⟩

Article dans une revue hal-04988732v1
Deposit thumbnail

Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes

Charissa Millevert , Nicholas Vidas-Guscic , Mohit Adhikari , Alan Miranda , Liesbeth Vanherp et al.

EBioMedicine, 2025, 121, pp.105986. ⟨10.1016/j.ebiom.2025.105986⟩

Article dans une revue hal-05349480v1
Deposit thumbnail

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

Marie Adamo-Croux , Chloé Angelini , Jérôme Aupy , Laurent Villard , Nathalie Villeneuve et al.

Epilepsia, 2025, 66 (8), pp.e187-e193. ⟨10.1111/epi.18507⟩

Article dans une revue hal-05265634v1
Deposit thumbnail

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale Sabeh , Samantha Dumas , Claudia Maios , Hiba Daghar , Marek Korzeniowski et al.

American Journal of Human Genetics, 2025, 112 (1), pp.75-86. ⟨10.1016/j.ajhg.2024.11.009⟩

Article dans une revue hal-05020352v1
Deposit thumbnail

Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy

Jordane Louis , Natalia Doudka , Marie-Solenne Felix , Adeline Ghata , Camille Espanet et al.

Epilepsia Open, 2025, 10 (4), pp.1199-1207. ⟨10.1002/epi4.70087⟩

Article dans une revue hal-05264566v1
Deposit thumbnail

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome

Clément Pierret , Florence Riccardi , Julien Neveu , Marie Alesandrini , Cécilia Altuzarra et al.

Epilepsia, 2025, 66 (8), pp.e158-e168. ⟨10.1111/epi.18495⟩

Article dans une revue hal-05265633v1
Deposit thumbnail

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

Jean-Madeleine de Sainte Agathe , Pauline Monin , Florence Riccardi , Caroline Nava , Lionel Arnaud et al.

European Journal of Neurology, 2025, 32 (8), pp.e70324. ⟨10.1111/ene.70324⟩

Article dans une revue hal-05235904v1
Deposit thumbnail

Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI

Thibault Beretti , William Rozalen , Laurent Villard , Florence Riccardi , Geraldine Daquin et al.

Epilepsia Open, 2025, 10 (5), pp.1605-1616. ⟨10.1002/epi4.70126⟩

Article dans une revue hal-05349507v1
Deposit thumbnail

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva et al.

Genetics in Medicine, 2024, pp.101251. ⟨10.1016/j.gim.2024.101251⟩

Article dans une revue hal-05020584v1
Deposit thumbnail

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

Lucile Brun , Emilie Borloz , Marie-Solenne Felix , Jordane Louis Durand , Laurent Villard

Epilepsy Research, 2023, 193, ⟨10.1016/j.eplepsyres.2023.107160⟩

Article dans une revue hal-04254089v1
Deposit thumbnail

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 et al.

Epilepsia, 2023, ⟨10.1111/epi.17603⟩

Article dans une revue hal-04072437v1
Deposit thumbnail

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Camille Engel , Stephanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli et al.

European Journal of Human Genetics, 2023, 31 (9), pp.1023-1031. ⟨10.1038/s41431-023-01410-z⟩

Article dans une revue hal-04254205v1
Deposit thumbnail

Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability

Elham Khosrowabadi , Cécile Mignon-Ravix , Florence Riccardi , Pierre Cacciagli , Béatrice Desnous et al.

Human Molecular Genetics, 2023, ⟨10.1093/hmg/ddad203⟩

Article dans une revue hal-04404827v1
Deposit thumbnail

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 et al.

The Journal of Physiology, In press, ⟨10.1113/JP282536⟩

Article dans une revue hal-03654270v1
Deposit thumbnail

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

Mario Abaji , Cecile Mignon-Ravix , Svetlana Gorokhova , Pierre Cacciagli , Jeremie Mortreux et al.

Journal of Medical Genetics, 2023, ⟨10.1136/jmg-2022-108677⟩

Article dans une revue hal-04254101v1
Deposit thumbnail

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

Stefanie Brock , Annie Laquerriere , Florent Marguet , Scott Myers , Yuan Hongjie et al.

Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩

Article dans une revue hal-03949474v1
Deposit thumbnail

The different clinical facets of SYN1-related neurodevelopmental disorders

Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet et al.

Frontiers in Cell and Developmental Biology, 2022, 10, pp.1019715. ⟨10.3389/fcell.2022.1019715⟩

Article dans une revue hal-03949582v1
Deposit thumbnail

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 et al.

European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩

Article dans une revue hal-03949438v1
Deposit thumbnail

Mouse models of Kcnq2 dysfunction

Lucile Brun , Jean‐charles Viemari , Laurent Villard

Epilepsia, 2022, 63 (11), pp.2813-2826. ⟨10.1111/epi.17405⟩

Article dans une revue (article de synthèse) hal-03853171v1
Deposit thumbnail

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

Elsa Leitão , Christopher Schröder , Ilaria Parenti , Carine Dalle , Agnès Rastetter et al.

Nature Communications, 2022, 13 (1), pp.6570. ⟨10.1038/s41467-022-34264-y⟩

Article dans une revue hal-03959490v1

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

Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu et al.

European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306

Article dans une revue hal-03678838v1
Deposit thumbnail

Molecular and clinical descriptions of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

Pierre‐yves Maillard , Sarah Baer , Elise Schaefer , Béatrice Desnous , Nathalie Villeneuve et al.

Epilepsia, 2022, 63 (10), pp.2519-2533. ⟨10.1111/epi.17336⟩

Article dans une revue hal-03700622v1
Deposit thumbnail

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 et al.

Orphanet Journal of Rare Diseases, 2021, 16 (1), pp.317. ⟨10.1186/s13023-021-01951-w⟩

Article dans une revue hal-03660800v1
Deposit thumbnail

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 et al.

Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩

Article dans une revue hal-03244899v1
Deposit thumbnail

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 et al.

Neurobiology of Disease, 2021, 149, pp.105235. ⟨10.1016/j.nbd.2020.105235⟩

Article dans une revue hal-03149051v1
Deposit thumbnail

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 et al.

International Journal of Molecular Sciences, 2021, 22 (9), pp.4316. ⟨10.3390/ijms22094316⟩

Article dans une revue hal-03662325v1
Deposit thumbnail

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

Siddharth Srivastava , Erica Macke , Lindsay Swanson , David Coulter , Eric Klee et al.

Brain Sciences, 2021, 11 (7), pp.931. ⟨10.3390/brainsci11070931⟩

Article dans une revue hal-03664847v1
Deposit thumbnail

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 et al.

Genetics in Medicine, 2021, ⟨10.1038/s41436-021-01260-4⟩

Article dans une revue hal-03322569v1
Deposit thumbnail

SYNGAP1-DEE: A visual sensitive epilepsy

Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia et al.

Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩

Article dans une revue hal-03255478v1
Deposit thumbnail

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 et al.

European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩

Article dans une revue hal-03149040v1
Deposit thumbnail

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 et al.

European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩

Article dans une revue hal-03662709v1
Deposit thumbnail

Rett syndrome: think outside the (skull) box

Emilie Borloz , Laurent Villard , Jean-Christophe Roux

Faculty Reviews, 2021, 10, ⟨10.12703/r/10-59⟩

Article dans une revue hal-03664868v1
Deposit thumbnail

Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice

Marie-Solenne Felix , Emilie Borloz , Khaled Metwally , Ambre Dauba , Benoit Larrat et al.

Pharmaceutics, 2021, 13, ⟨10.3390/pharmaceutics13081245⟩

Article dans une revue hal-03408975v1
Deposit thumbnail

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 et al.

Archives de Pédiatrie, 2021, 28 (1), pp.87-92. ⟨10.1016/j.arcped.2020.10.015⟩

Article dans une revue hal-03148905v1
Deposit thumbnail

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Marina Trivisano , Alessandro Ferretti , Elizabeth Bebin , Linda Huh , Gaetan Lesca et al.

Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩

Article dans une revue hal-03149027v1
Deposit thumbnail

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 et al.

Epilepsia, 2020, 61 (5), pp.868-878. ⟨10.1111/epi.16494⟩

Article dans une revue inserm-02551507v1
Deposit thumbnail

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 et al.

European Journal of Human Genetics, 2020, 28, pp.1703-1713. ⟨10.1038/s41431-020-0659-z⟩

Article dans une revue hal-02964192v1
Deposit thumbnail

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 et al.

EMBO Molecular Medicine, 2020, 12 (2), pp.e10889. ⟨10.15252/emmm.201910889⟩

Article dans une revue hal-02462121v1
Deposit thumbnail

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 et al.

PLoS Biology, 2020, 18 (11), pp.e3000738. ⟨10.1371/journal.pbio.3000738⟩

Article dans une revue hal-03010771v1
Deposit thumbnail

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 et al.

European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩

Article dans une revue hal-03148924v1
Deposit thumbnail

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 et al.

European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩

Article dans une revue hal-03477017v1
Deposit thumbnail

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 et al.

PLoS Biology, 2020, 18 (11), pp.e3000738. ⟨10.1371/journal.pbio.3000738⟩

Article dans une revue hal-03013221v1
Deposit thumbnail

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

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.

Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018-0268-1⟩

Article dans une revue hal-01919142v1

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 et al.

Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩

Article dans une revue 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 et al.

European Journal of Human Genetics, 2019, 27 (1), pp.263

Article dans une revue hal-02461435v1

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

Anne O’donnell-Luria , Lynn Pais , Víctor Faundes , Jordan Wood , Abigail Sveden et al.

American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩

Article dans une revue hal-02417518v1

First principles gyrokinetic analysis of electromagnetic plasma instabilities

Natalia Tronko , Alberto Bottino , Cristel Chandre , Eric Sonnendrücker , Emmanuel Lanti et al.

Plasma Physics and Controlled Fusion, 2019, 61, pp.114002

Article dans une revue 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 et al.

European Journal of Human Genetics, 2019, 27 (1), pp.246-247

Article dans une revue 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 et al.

Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩

Article dans une revue hal-01932802v1
Deposit thumbnail

Analysis of the Phenotypes in the Rett Networked Database

Elisa Frullanti , Filomena Papa , Elisa Grillo , Angus Clarke , Bruria Ben-Zeev et al.

International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩

Article dans une revue hal-02417606v1
Deposit thumbnail

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 et al.

Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩

Article dans une revue hal-01932796v1

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 et al.

Epilepsia, 2019, 60 (5), pp.845-856. ⟨10.1111/epi.14727⟩

Article dans une revue hal-02417625v1
Deposit thumbnail

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 et al.

European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩

Article dans une revue hal-01668647v1

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 et al.

Plasma Physics and Controlled Fusion, 2018, 60 (3), ⟨10.1088/1361-6587/aaa71d⟩

Article dans une revue hal-01874769v1

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 et al.

Brain and Development, 2018, 40 (9), pp.768 - 774. ⟨10.1016/j.braindev.2018.05.008⟩

Article dans une revue hal-01932806v1

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 et al.

Human Mutation, 2018, 39 (7), pp.934-938. ⟨10.1002/humu.23534⟩

Article dans une revue hal-01874770v1
Deposit thumbnail

Effect of desipramine on patients with breathing disorders in RETT syndrome

Josette Mancini , Jean-Christophe Dubus , Elisabeth Jouve , Jean-Christophe Roux , Patricia Franco et al.

Annals of Clinical and Translational Neurology, 2018, 5 (2), pp.118 - 127. ⟨10.1002/acn3.468⟩

Article dans une revue hal-01718409v1
Deposit thumbnail

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 et al.

Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩

Article dans une revue hal-01932799v1
Deposit thumbnail

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 et al.

Neurobiology of Disease, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩

Article dans une revue hal-01426386v1

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

F. Sauvestre , S. Moutton , Catherine Badens , B. Broussin , D. Carles et al.

Neuropathology and Applied Neurobiology, 2017, 43 (7), pp.631-635. ⟨10.1111/nan.12409⟩

Article dans une revue 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 et al.

European Journal of Paediatric Neurology, 2017, 21 (5), pp.783 - 786. ⟨10.1016/j.ejpn.2017.04.001⟩

Article dans une revue hal-01668649v1
Deposit thumbnail

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

Markus Wolff , Katrine M. Johannesen , Ulrike B. S. Hedrich , Silvia Masnada , Guido Rubboli et al.

Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩

Article dans une revue hal-01668653v1
Deposit thumbnail

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Mathieu Milh , Pierre Cacciagli , Cecile Mignon-Ravix , Catherine Badens , A. Lepine et al.

Revue Neurologique, 2016, 172 (3), pp.171-173. ⟨10.1016/j.neurol.2016.02.005⟩

Article dans une revue hal-01668113v1
Deposit thumbnail

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 et al.

Epilepsia, 2016, 57 (5), pp.e87 - e93. ⟨10.1111/epi.13366⟩

Article dans une revue 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 et al.

Journal of Genetics, 2016, 95 (1), pp.203-208

Article dans une revue hal-01469051v1

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 et al.

American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩

Article dans une revue istex hal-01469066v1
Deposit thumbnail

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 et al.

Epilepsy Research, 2015, 111, pp.72 - 77. ⟨10.1016/j.eplepsyres.2015.01.008⟩

Article dans une revue hal-01664298v1
Deposit thumbnail

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 et al.

European Journal of Human Genetics, 2015, 24 (4), pp.615 - 618. ⟨10.1038/ejhg.2015.159⟩

Article dans une revue hal-01668016v1
Deposit thumbnail

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 et al.

Molecular Cytogenetics, 2015, ⟨10.1186/s13039-015-0149-0⟩

Article dans une revue hal-01203126v1
Deposit thumbnail

A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Diane Doummar , Cyril Mignot , Emmanuelle Apartis , Laurent Villard , Diana Rodriguez et al.

Movement Disorders, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩

Article dans une revue istex hal-01664305v1
Deposit thumbnail

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 et al.

Neurobiology of Disease, 2015, 80, pp.80 - 92. ⟨10.1016/j.nbd.2015.04.017⟩

Article dans une revue hal-01664283v1
Deposit thumbnail

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 et al.

Molecular Cytogenetics, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩

Article dans une revue hal-01216061v1

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

Gabriele Merlo , Stephan Brunner , Olivier Sauter , Yann Camenen , Tobias Görler et al.

Plasma Physics and Controlled Fusion, 2015, 57 (5), pp.054010. ⟨10.1088/0741-3335/57/5/054010⟩

Article dans une revue hal-01465035v1
Deposit thumbnail

Epilepsy in Rett syndrome—Lessons from the Rett networked database

Andreea Nissenkorn , Rachel S. Levy-Drummer , Ori Bondi , Alessandra Renieri , Laurent Villard et al.

Epilepsia, 2015, 56 (4), pp.569 - 576. ⟨10.1111/epi.12941⟩

Article dans une revue hal-01664319v1

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⟩

Article dans une revue hal-01432068v1
Deposit thumbnail

Variable Clinical Expression in Patients with Mosaicism for KCNQ2 Mutations

Mathieu Milh , Caroline Lacoste , Pierre Cacciagli , Affef Abidi , Julie Sutera-Sardo et al.

American Journal of Medical Genetics Part A, 2015, 167 (10), pp.2314-2318. ⟨10.1002/ajmg.a.37152⟩

Article dans une revue istex hal-01664288v1
Deposit thumbnail

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 et al.

Epilepsia, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩

Article dans une revue hal-01664313v1

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 et al.

Plasma Physics and Controlled Fusion, 2014, 56 (7), pp.072001. ⟨10.1088/0741-3335/56/7/072001⟩

Article dans une revue hal-01550965v1
Deposit thumbnail

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 et al.

PLoS ONE, 2014, 9 (3), pp.e92169. ⟨10.1371/journal.pone.0092169⟩

Article dans une revue hal-01668664v1

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 et al.

American Journal of Medical Genetics Part A, 2014, 164 (8), pp.1991 - 1997. ⟨10.1002/ajmg.a.36602⟩

Article dans une revue istex hal-01668660v1
Deposit thumbnail

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 et al.

American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩

Article dans une revue hal-01668025v1

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 et al.

European Journal of Human Genetics, 2013, 22 (3), pp.363 - 368. ⟨10.1038/ejhg.2013.135⟩

Article dans une revue hal-01668667v1

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 et al.

Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩

Article dans une revue hal-02124657v1
Deposit thumbnail

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 et al.

Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.80. ⟨10.1186/1750-1172-8-80⟩

Article dans une revue inserm-00829466v1
Deposit thumbnail

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 et al.

American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩

Article dans une revue hal-01668665v1

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

Ibrahim Tanyalçin , Helene Verhelst , Dicky J.J. Halley , Tim Vanderhasselt , Laurent Villard et al.

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

Article dans une revue istex 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 et al.

Human Mutation, 2013, 34 (6), pp.869 - 872. ⟨10.1002/humu.22318⟩

Article dans une revue istex hal-01668674v1

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

Jean-Christophe Roux , Diana Zala , Nicolas Panayotis , Ana Borges-Correia , Frédéric Saudou et al.

Neurobiology of Disease, 2012, 45 (2), pp.786 - 795. ⟨10.1016/j.nbd.2011.11.002⟩

Article dans une revue istex hal-01668679v1
Deposit thumbnail

Un lien inattendu entre maladie de Huntington et syndrome de Rett

Jean-Christophe Roux , Diana Zala , Nicolas Panayotis , Ana Borges-Correia , Frédéric Saudou et al.

Médecine/Sciences, 2012, 28 (1), pp.44-46. ⟨10.1051/medsci/2012281016⟩

Article dans une revue hal-03766472v1

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

Elisa Grillo , Laurent Villard , Angus Clarke , Bruria Ben Zeev , Mercedes Pineda et al.

Human Mutation, 2012, 33 (7), pp.1031 - 1036. ⟨10.1002/humu.22072⟩

Article dans une revue hal-01668676v1
Deposit thumbnail

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⟩

Article dans une revue inserm-00668420v1

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

André Mégarbané , Eliane Chouery , Cecile Mignon-Ravix , Sandra El Sabbagh , Sandra Corbani et al.

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

Article dans une revue inserm-00588628v1

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⟩

Article dans une revue istex hal-03766469v1

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

Mathieu Milh , Nathalie Villeneuve , Mondher Chouchane , Anna Kaminska , Cécile Laroche et al.

Epilepsia, 2011, 52 (10), pp.1828 - 1834. ⟨10.1111/j.1528-1167.2011.03181.x⟩

Article dans une revue hal-01668681v1

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

Nicolas Panayotis , Michel Pratte , Ana Borges-Correia , Adeline Ghata , Laurent Villard et al.

Neurobiology of Disease, 2011, 41 (2), pp.385 - 397. ⟨10.1016/j.nbd.2010.10.006⟩

Article dans une revue istex hal-01668685v1
Deposit thumbnail

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

Laurent Villard , Pierre Cacciagli , Marie-Reine Haddad , Cecile Mignon-Ravix , Bilal El-Waly et al.

European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.126⟩

Article dans une revue hal-00563106v1

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

Cecile Mignon-Ravix , P. Cacciagli , B. El-Waly , A. Moncla , M. Milh et al.

Journal of Medical Genetics, 2010, 47 (2), pp.132-6

Article dans une revue hal-00617786v1
Deposit thumbnail

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

Nadia Bahi-Buisson , Karine Poirier , Nathalie Boddaert , Catherine Fallet-Bianco , Nicola Specchio et al.

Brain - A Journal of Neurology , 2010, 133 (11), pp.3194 - 3209. ⟨10.1093/brain/awq259⟩

Article dans une revue hal-01668022v1
Deposit thumbnail

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

Carlos Cardoso , Amber Boys , Ellena Parrini , Cecile Mignon-Ravix , Jacinta M. Mcmahon et al.

Neurology, 2009, 72 (9), pp.784-92. ⟨10.1212/01.wnl.0000336339.08878.2d⟩

Article dans une revue inserm-00483473v1

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⟩

Article dans une revue istex hal-03766464v1

TCF4 deletions in Pitt-Hopkins Syndrome.

Irina Giurgea , Chantal Missirian , Pierre Cacciagli , Sandra Whalen , Tessa Fredriksen et al.

Human Mutation, 2008, 29 (11), pp.E242-51. ⟨10.1002/humu.20859⟩

Article dans une revue inserm-00325404v1
Deposit thumbnail

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⟩

Article dans une revue hal-00169296v1

Beyond scale separation in gyrokinetic turbulence

Xavier Garbet , Yanick Sarazin , Virginie Grandgirard , Guilhem Dif-Pradalier , Guillaume Darmet et al.

Nuclear Fusion, 2007, 47 (9), pp.1206-1212. ⟨10.1088/0029-5515/47/9/017⟩

Article dans une revue istex hal-00594867v1

La turbulence dans les plasmas

Laurent Villard

Interstices, 2007

Article dans une revue hal-01350180v1

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

V. Saywell , A. Viola , Sylviane Confort-Gouny , Y. L. Fur , Laurent Villard et al.

Biochemical and Biophysical Research Communications, 2006, 340 (3), pp.776-783

Article dans une revue hal-00092245v1

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

Virginie Grandgirard , Maura Brunetti , Pierre Bertrand , Nicolas Besse , Xavier Garbet et al.

Journal of Computational Physics, 2006, 217, pp.395-423. ⟨10.1016/j.jcp.2006.01.023⟩

Article dans une revue hal-00594856v1
Deposit thumbnail

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

Jean-Charles Viemari , Jean-Christophe Roux , Andrew K Tryba , Véronique Saywell , Henri Burnet et al.

Journal of Neuroscience, 2005, 25 (50), pp.11521-30. ⟨10.1523/JNEUROSCI.4373-05.2005⟩

Article dans une revue hal-00287790v1
Deposit thumbnail

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

Laurent Villard , Nicolas Lévy , Fengqing Xiang , Arlette Kpebe , Véronique Labelle et al.

Journal of Medical Genetics, 2001, 38 (7), pp.435-442. ⟨10.1136/jmg.38.7.435⟩

Article dans une revue 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 et al.

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⟩

Article dans une revue istex hal-02142330v1

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

M Lévy , Rafaëlle Bernard-Bronsard , M Lossi , Laurence Colleaux , Carlos Cardoso et al. Article dans une revue istex hal-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 et al.

Genomics, 1997, 43 (2), pp.149-155. ⟨10.1006/geno.1997.4793⟩

Article dans une revue istex hal-02090255v1
Deposit thumbnail

EUROfusion Integrated Modelling (EU-IM) capabilities and selected physics applications

Gloria Luisa Falchetto , Markus I. Airila , A. Alberto Morillas , E. Andersson Sundén , Thierry Aniel et al.

2016 - 26th IAEA Fusion Energy Conference, Oct 2016, Kyoto, Japan. pp.1-10

Communication dans un congrès 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

Communication dans un congrès hal-00588200v1