Isabelle Gourfinkel‐An

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics · 2001 · 763 citations

Genetics, Psychiatric Genetics, Neuropharmacology +9

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 · 368 citations · Full text

Mainly Affects Females, Dravet Syndrome, Mendelian Disorder +15

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

Stéphanie Baulac, Isabelle Gourfinkel‐An, Fabienne Picard et al. · The American Journal of Human Genetics · 1999 · 207 citations · Full text

Mendelian Disorder, Familial Generalized Epilepsy, Genetic Disorder +6

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 · 153 citations · Full text

Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients

Karine Nguyen, Valérie Hahn‐Barma, Isabelle Gourfinkel‐An et al. · Archives of Neurology · 2007 · 132 citations