Julie Sutera-Sardo

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo et al. · Orphanet Journal of Rare Diseases · 2013 · 92 citations · Full text

Medicine, Genetics, Neurology +17

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Affef Abidi, Jérôme Devaux, Florence Molinari et al. · Neurobiology of Disease · 2015 · 74 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia et al. · The American Journal of Human Genetics · 2013 · 69 citations · Full text

Medicine, Genetics, Neuroscience +17

Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

Mathieu Milh, Caroline Lacoste, Pierre Cacciagli et al. · American Journal of Medical Genetics Part A · 2015 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +17