Anne Roubergue

Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh et al. · Human Mutation · 2013 · 95 citations

Genetics, Synaptic Transmission, Kcnq2 Encephalopathy +22

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Marie Hully, Sandrine Vuillaumier‐Barrot, Christiane Le Bizec et al. · European Journal of Medical Genetics · 2015 · 69 citations

Autoimmune Disease, Genetic Disorder, Genetics +4

Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

Emmanuel Roze, Valérie Cochen, Sophie Sangla et al. · Movement Disorders · 2007 · 48 citations

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel <i>GLB1</i> mutations

Doris Hofer, K. B. Paul, Katrin Fantur et al. · Clinical Genetics · 2010 · 48 citations

Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

Anne Roubergue, Bertrand Philibert, Agnès Gautier et al. · JIMD Reports · 2014 · 38 citations · Full text