Isabelle Gourfinkel‐An
Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut de Myologie(FR)Pitié-Salpêtrière Hospital(FR)Epilepsy Foundation(AU)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Neuroscience and Neuropharmacology Research, Genomics and Rare Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene(2001)764 cited
- → Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis(2008)496 cited
- → Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females(2009)368 cited
- → Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients(2008)362 cited
- → A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33(1999)207 cited
- → Fever, genes, and epilepsy(2004)200 cited