Dorothée Ville

9PUBLICATIONS
122CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (9)

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Apr 25, 2026
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

|Feb 20, 2026
Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

Léa Schieffer, Catherine Garel, Laurent Guibaud

|Aug 08, 2025
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

|Jul 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Angela Clara-Hwang, Stefani Stefani, Tracy Lau

|Oct 16, 2023
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.

Gianni Cutillo, Silvia Masnada, Gaetan Lesca

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Frequent Collaborators

8 joint publications

Gaetan Lesca

3 joint publications

Nicolas Chatron

3 joint publications

Mathieu Milh

2 joint publications

Béatrice Desnous