Nathalie Villeneuve

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider et al. · Nature Genetics · 2010 · 509 citations

Life Sciences, Genetics, Neuroscience +16

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens

Rima Nabbout, Arun Mistry, Sameer M. Zuberi et al. · JAMA Neurology · 2019 · 241 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +15

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders

Éric Lemonnier, Nathalie Villeneuve, Sandrine Sonié et al. · Translational Psychiatry · 2017 · 210 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An et al. · Journal of Medical Genetics · 2010 · 157 citations

Life Sciences, Genetics, Molecular Genetics +17