François Feillet

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 133 citations · Full text

First Days, Neurobiology Of Disease, Neurological Disorder +10

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 107 citations · Full text

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Twenty-five novel mutations including duplications in the ATP7A gene

MP Moizard, Nathalie Ronce, S. Blesson et al. · Clinical Genetics · 2010 · 19 citations

Atp7a Gene, Mendelian Disorder, Point Mutations +13