Gaëtan Lesca

Université Claude Bernard Lyon 1 — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

67h-index14.3kcitations445works3.72yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(193), Genomics and Rare Diseases(125), Genomic variations and chromosomal abnormalities(70), Epilepsy research and treatment(54), Ion channel regulation and function(33)

Publications433 total

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
Molecular Psychiatry·2025Open Access
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes
Neuropediatrics·2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Genetics in Medicine·2025· 1 citedOpen Access
<i>USP25</i> in genetic generalized epilepsy: a gene under scrutiny
Brain·2025· 1 cited
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
Molecular Psychiatry·2025Open Access
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome Medicine·2025· 1 citedOpen Access
A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis
Cells·2025Open Access
De Novo Truncating Variants in <scp> <i>ZNF865</i> </scp> Cause a Novel Neurodevelopmental Disorder
American Journal of Medical Genetics Part A·2025· 1 cited
Development of a functional assay for the characterisation of <i>SMAD4</i> variants from the French haemorrhagic hereditary telangiectasia cohort
Journal of Medical Genetics·2025Open Access
Differential outcomes in familial and sporadic <i>SCN8A</i> self‐limited infantile epilepsies: Insights from a large international registry
Epilepsia·2025Open Access
Author response for "Mucin 1 Antigen Mimetic Functionalized Mannosylated Peptide Nanofibers for Antigen Uptake and Immune Modulation"
2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
European Journal of Neurology·2025· 3 citedOpen Access
The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
Annals of Neurology·2025· 5 citedOpen Access
Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia
European Journal of Human Genetics·2025· 2 cited
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants
Neurology·2025· 6 citedOpen Access
<i>De novo</i> variants of <i>NALCN</i> differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
2025· 1 citedOpen Access
<scp><i>GABRA2</i></scp>‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
Epilepsia·2025· 1 citedOpen Access
MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia
Genes·2025Open Access
Broadening the phenotype associated with pathogenic variants in the <i>FGF12</i> gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome
Epilepsia·2025· 1 citedOpen Access
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children
European Journal of Human Genetics·2025· 2 citedOpen Access
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Frequent Co-authors

Damien Sanlaville(16), Cyril Mignot(12), Sarah Weckhuysen(10), Julitta de Bellescize(10), Dorothée Ville(9), Diane Doummar(8), Rikke S. Møller(8), Patrick Edery(8), Alexandra Afenjar(7), Caroline Nava(7), Johannes R. Lemke(7), Gabrielle Rudolf(7), Alexis Arzimanoglou(7), Édouard Hirsch(7), Bertrand Isidor(7), Guido Rubboli(6), Nienke E. Verbeek(6), Audrey Labalme(6), Nadia Boutry‐Kryza(6), Anne de Saint Martin(6)