Agnès Rastetter

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava, Carine Dalle, Agnès Rastetter et al. · Nature Genetics · 2014 · 230 citations · Full text

Genetic Disorder, Genetics, Neuroscience +4

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 194 citations

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets et al. · The American Journal of Human Genetics · 2013 · 165 citations · Full text

Motor Neuron Defects, Neurological Disorder, Degenerative Disease +8

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe, Alexander Lossos, Hamid Azzedine et al. · European Journal of Human Genetics · 2012 · 153 citations · Full text

Biology, Mendelian Disorder, Kif1a Missense Mutations +8

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text