Julitta de Bellescize

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 · 441 citations

Medicine, Neurology, Neuroscience +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme et al. · Epilepsia · 2012 · 188 citations

Medicine, Genetics, Neuroscience +17