Emilie Bourel‐Ponchel

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

Coupled oxygenation oscillation measured by NIRS and intermittent cerebral activation on EEG in premature infants

Nadège Roche‐Labarbe, Fabrice Wallois, Emilie Bourel‐Ponchel et al. · NeuroImage · 2007 · 94 citations

Oxygenation Oscillation, Premature Infants, Neurophysiology +15

Ketogenic diet for infantile spasms refractory to first-line treatments: An open prospective study

Maria Elisa Paiva Pires, Adina Iléa, Emilie Bourel‐Ponchel et al. · Epilepsy Research · 2013 · 79 citations

Infantile Spasms Refractory, Open Prospective Study, Pediatrics +1

Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

S. Dimassi, Dorothée Ville, Alain Calender et al. · Clinical Genetics · 2015 · 78 citations

Developmental Anomaly, Rare Diseases, Mendelian Disorder +14

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

Nadia Boutry‐Kryza, Audrey Labalme, Dorothée Ville et al. · European Journal of Medical Genetics · 2014 · 71 citations

Molecular Characterization, Neurological Disorder, Pediatrics +5