Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

L. Villard · SciRah

Researcher profile · Semantic Scholar

L. Villard

Share profile

L. Villard — researcher profile on SciRah

h-index: 48
Works: 219
Citations: 7,878

Most-cited papers

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
A. O'Donnell-Luria, L. Pais, V. Faundes, J. Wood +81 more
2019bioRxiv74 citations Open access
Semantic Scholar
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
P. Maillard, S. Baer, E. Schaefer, Béatrice Desnous +29 more
2022Epilepsia67 citations Open access
Semantic Scholar
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Marie Le Roux, M. Barth, S. Guéden, P. Desbordes de Cepoy +22 more
2021European journal of paediatric neurology67 citations Open access
Semantic Scholar
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine62 citations Open access
Semantic Scholar
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
J. Piard, L. Hawkes, M. Milh, L. Villard +26 more
2018Genetics in Medicine58 citations Open access
Semantic Scholar
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
S. Valence, E. Cochet, C. Rougeot, C. Garel +24 more
2018Genetics in Medicine55 citations Open access
Semantic Scholar
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
N. Bramswig, A. Bertoli-Avella, B. Albrecht, A. al Aqeel +41 more
2018Human Genetics47 citations Open access
Semantic Scholar
Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome.
V. Matagne, Emilie Borloz, Yann Ehinger, Lydia Saidi +2 more
2020Neurobiology of Disease46 citations Open access
Semantic Scholar
Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice
M. Felix, Emilie Borloz, K. Metwally, Ambre Dauba +7 more
2021Pharmaceutics45 citations Open access
Semantic Scholar
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst
C. Mignon‐Ravix, M. Milh, C. Kaiser, Jens Daniel +6 more
2018Human Mutation45 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022Nature Communications44 citations Open access
Semantic Scholar
Analysis of the Phenotypes in the Rett Networked Database
E. Frullanti, F. T. Papa, Elisa Grillo, A. Clarke +28 more
2019International Journal of Genomics41 citations Open access
Semantic Scholar
The M-current works in tandem with the persistent sodium current to set the speed of locomotion
Jérémy Verneuil, C. Brocard, V. Trouplin, L. Villard +2 more
2020PLoS Biology36 citations Open access
Semantic Scholar
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures
J. Denis, N. Villeneuve, Pierre Cacciagli, C. Mignon‐Ravix +24 more
2019Epilepsia33 citations
Semantic Scholar
A knock‐in mouse model for KCNQ2‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment
M. Milh, P. Roubertoux, Najoua Biba, J. Chavany +10 more
2020Epilepsia31 citations Open access
Semantic Scholar
Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice
Yann Ehinger, Julie Bruyère, N. Panayotis, Y. Abada +9 more
2019bioRxiv31 citations Open access
Semantic Scholar
SYNGAP1-DEE: A visual sensitive epilepsy.
Tommaso Lo Barco, A. Kaminska, R. Solazzi, C. Cancés +12 more
2021Clinical Neurophysiology28 citations Open access
Semantic Scholar
Rett syndrome from bench to bedside: recent advances
Yann Ehinger, V. Matagne, L. Villard, J. Roux
2018F1000Research28 citations Open access
Semantic Scholar
The different clinical facets of SYN1-related neurodevelopmental disorders
I. Parenti, E. Leitão, A. Kuechler, L. Villard +48 more
2022Frontiers in Cell and Developmental Biology24 citations Open access
Semantic Scholar
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
M. Iqbal, R. Maroofian, Busranur Cavdarli, F. Riccardi +102 more
2021Genetics in Medicine21 citations Open access
Semantic Scholar
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
M. Trivisano, A. Ferretti, E. Bebin, L. Huh +29 more
2020Epilepsia21 citations Open access
Semantic Scholar
Rett syndrome: think outside the (skull) box
Emilie Borloz, L. Villard, J. Roux
2021Faculty Reviews20 citations Open access
Semantic Scholar
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Pauline Marzin, C. Mignot, N. Dorison, L. Dufour +17 more
2018Brain & development (Tokyo. 1979)20 citations
Semantic Scholar
Time‐limited alterations in cortical activity of a knock‐in mouse model of KCNQ2‐related developmental and epileptic encephalopathy
Najoua Biba-Maazou, H. Becq, Emilie Pallesi-Pocachard, S. Sarno +7 more
2022Journal of Physiology15 citations Open access
Semantic Scholar
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca, O. Patat, S. Whalen, L. Arnaud +16 more
2021Journal of Medical Genetics14 citations
Semantic Scholar
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
S. Srivastava, E. Macke, L. Swanson, D. Coulter +10 more
2021Brain Science13 citations Open access
Semantic Scholar
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome
Y. Ehinger, V. Matagne, V. Cunin, Emilie Borloz +5 more
2021International Journal of Molecular Sciences13 citations Open access
Semantic Scholar
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, S. Valence, Geoffroy Delplancq, R. Maroofian +86 more
2023European Journal of Human Genetics12 citations Open access
Semantic Scholar
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, A. Laquérriere, F. Marguet, S. J. Myers +25 more
2022Journal of Medical Genetics12 citations Open access
Semantic Scholar
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, C. Mignon‐Ravix, S. Ben Ncir, F. Kammoun +3 more
2021Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
Mouse models of Kcnq2 dysfunction
Lucile Brun, J. Viemari, L. Villard
2022Epilepsia10 citations Open access
Semantic Scholar
Faculty Opinions recommendation of Enteric nervous system: sensory transduction, neural circuits and gastrointestinal motility.
L. Villard
2021Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature10 citations
Semantic Scholar
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
S. Whalen, M. Shaw, C. Mignot, D. Heron +35 more
2021European Journal of Human Genetics10 citations Open access
Semantic Scholar
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
C. Mignon‐Ravix, F. Riccardi, G. Daquin, Pierre Cacciagli +4 more
2023Epilepsia8 citations Open access
Semantic Scholar
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
L. Arnaud, M. Abi Wardé, G. Barcia, J. de Bellescize +21 more
2022European Journal of Medical Genetics8 citations Open access
Semantic Scholar
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
S. Cabasson, J. Van-Gils, F. Villéga, M. Abi-Wardé +10 more
2020European journal of paediatric neurology8 citations Open access
Semantic Scholar
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
B. El Waly, C. Mignon‐Ravix, Pierre Cacciagli, E. Buhler +2 more
2020European Journal of Human Genetics7 citations Open access
Semantic Scholar
Faculty Opinions recommendation of Chronic Administration of the N-Methyl-D-Aspartate Receptor Antagonist Ketamine Improves Rett Syndrome Phenotype.
L. Villard, J. Roux
20186 citations
Semantic Scholar
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Elham Khosrowabadi, C. Mignon‐Ravix, F. Riccardi, Pierre Cacciagli +6 more
2023Human Molecular Genetics4 citations Open access
Semantic Scholar
Time-limited alterations in cortical activity of a Knock-in mice model of KCNQ2-related Developmental and Epileptic Encephalopathy
Najoua Biba, H. Becq, M. Kurz, E. Pallesi +4 more
2020bioRxiv4 citations Open access
Semantic Scholar
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine3 citations Open access
Semantic Scholar
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Mario Abaji, C. Mignon‐Ravix, S. Gorokhova, Pierre Cacciagli +6 more
2023Journal of Medical Genetics2 citations Open access
Semantic Scholar
It takes two to tango: M-current swings with the persistent sodium current to set the speed of locomotion
Jérémy Verneuil, C. Brocard, L. Villard, Julie Peyronnet-Roux +1 more
2020bioRxiv2 citations Open access
Semantic Scholar
F1000Prime recommendation of A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome.
L. Villard, J. Roux
20182 citations
Semantic Scholar
Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE.
Lucile Brun, Emilie Borloz, M. Felix, Jordane Louis Durand +1 more
2023Epilepsy Research1 citations Open access
Semantic Scholar
Faculty Opinions recommendation of Restoration of brain circulation and cellular functions hours post-mortem.
L. Villard
2019Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature1 citations Open access
Semantic Scholar
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
J. Piard, L. Hawkes, M. Milh, L. Villard +27 more
2019Genetics in Medicine1 citations Open access
Semantic Scholar
F1000Prime recommendation of Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
L. Villard, J. Roux
20181 citations Open access
Semantic Scholar
Cellular, electrophysiological and behavioral improvements in a mouse model of Rett syndrome following gene therapy combined with focused ultrasound-mediated blood-brain barrier opening.
M. Felix, Léna Bourcin, Emilie Borloz, K. Metwally +7 more
2026Experimental Neurology0 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with disorders on chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022medRxiv0 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

M. Milh×15
Invite
M. Milh — researcher profile on SciRah
C. Mignot×14
Invite
C. Mignot — researcher profile on SciRah
D. Heron×13
Invite
D. Heron — researcher profile on SciRah
C. Nava×11
Invite
C. Nava — researcher profile on SciRah

×11

Invite

G. Lesca — researcher profile on SciRah

Invite

J. Roux — researcher profile on SciRah

Invite

B. Keren — researcher profile on SciRah

C. Mignon‐Ravix×8

Invite

C. Mignon‐Ravix — researcher profile on SciRah

Invite

G. Barcia — researcher profile on SciRah

Invite

C. Depienne — researcher profile on SciRah

Emilie Borloz×7

Invite

Emilie Borloz — researcher profile on SciRah

N. Villeneuve×6

Invite

N. Villeneuve — researcher profile on SciRah