Dorothée Ville

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau et al. · Nature Genetics · 2013 · 436 citations

Neuropsychology, Language Disorder, Grin2a Mutations +11

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas et al. · Brain · 2008 · 285 citations

Cdkl5-associated Encephalopathy, Developmental Anomaly, Mendelian Disorder +12

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

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis et al. · Human Mutation · 2007 · 230 citations