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Stéphanie Valence

5PUBLICATIONS

146CO-AUTHORS

Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Foetal development and medicineVirtual and mixed reality

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Publications (5)

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|Mar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Jun 21, 2023

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

Camille Engel, Stéphanie Valence, Geoffroy Delplancq

|Feb 23, 2023

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

M Gafner, C Garel, Z Leibovitz

|Oct 23, 2022

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.

Justine Chanclud, Stéphanie Valence, Saskia Vande Perre

|Jul 14, 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Vincenzo Salpietro, Christine L Dixon, Hui Guo

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Frequent Collaborators

3 joint publications

Lydie Burglen

3 joint publications

Amy Schneider

2 joint publications

Gaetan Lesca

2 joint publications

Catherine Garel

2 joint publications

Anne-Sophie Denommé-Pichon

2 joint publications

Henry Houlden

2 joint publications

Maha S Zaki

2 joint publications

Christophe Philippe

2 joint publications

Ange-Line Bruel

2 joint publications

Alfredo Brusco

Frequent Collaborators

3 joint publications

Lydie Burglen

3 joint publications

Amy Schneider

2 joint publications

Gaetan Lesca

2 joint publications

Catherine Garel

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