Agnès Gautier

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren et al. · PLoS Genetics · 2009 · 371 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An et al. · Journal of Medical Genetics · 2010 · 157 citations

Life Sciences, Genetics, Molecular Genetics +17

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier et al. · Clinical Genetics · 2010 · 150 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller et al. · Human Mutation · 2010 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Sarah Vergult, Annelies Dheedene, Alfred Meurs et al. · European Journal of Human Genetics · 2014 · 98 citations

Life Sciences, Genetics, Molecular Genetics +16