Gaetan Lesca

Groupement Hospitalier Est
Bron, France

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 318 publications

Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.

Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.

Journal: Circulation. Genomic and precision medicine
Published: June 09, 2026

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology
Published: May 26, 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine
Published: April 25, 2026

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Journal: Stem cell research
Published: February 17, 2026

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG
Published: February 02, 2026

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Journal: Molecular psychiatry
Published: January 07, 2026

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Journal: Neuropediatrics
Published: November 19, 2025

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

Journal: Epilepsia
Published: November 13, 2025

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Journal: Stem cell research
Published: October 31, 2025

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Journal: Brain : a journal of neurology
Published: October 17, 2025

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Journal: EBioMedicine
Published: October 07, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia
Published: October 02, 2025
Showing 1-12 of 318

Last Updated: 09/26/2026