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Isabelle Gourfinkel-An
Researcher at French Institute of Health and Medical Research
Publications - 43
Citations - 4147
Isabelle Gourfinkel-An is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Epilepsy & Mutation. The author has an hindex of 28, co-authored 41 publications receiving 3862 citations. Previous affiliations of Isabelle Gourfinkel-An include Paris Descartes University & Necker-Enfants Malades Hospital.
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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
Stéphanie Baulac,Gilles Huberfeld,Isabelle Gourfinkel-An,Georgia Mitropoulou,Alexandre Beranger,Jean-François Prud'homme,Michel Baulac,Alexis Brice,Roberto Bruzzone,Eric LeGuern +9 more
TL;DR: Analysis of the mutated and wild-type alleles in Xenopus laevis oocytes confirmed the predicted effect of the mutation, a decrease in the amplitude of GABA-activated currents, providing the first genetic evidence that a GABAA receptor is directly involved in human idiopathic epilepsy.
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Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis
Claire Amiet,Isabelle Gourfinkel-An,Anissa Bouzamondo,Sylvie Tordjman,Michel Baulac,Philippe Lechat,Laurent Mottron,David Cohen +7 more
TL;DR: It is indicated that risk for epilepsy in autism is a function of ID severity and distinguishes autism associated with epilepsy as a subgroup of autism by its male-female ratio.
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Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions
Monica Holmberg,Charles Duyckaerts,Alexandra Durr,Géraldine Cancel,Isabelle Gourfinkel-An,Philippe Damier,Baptiste Faucheux,Yvon Trottier,Etienne C. Hirsch,Yves Agid,Alexis Brice +10 more
TL;DR: The presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.
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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne,Christel Depienne,Delphine Bouteiller,Boris Keren,Emmanuel Cheuret,Karine Poirier,Oriane Trouillard,Baya Benyahia,Chloé Quélin,Wassila Carpentier,Sophie Julia,Alexandra Afenjar,Agnès Gautier,François Rivier,Sophie Meyer,Patrick Berquin,Marie Hélias,Isabelle Py,Serge Rivera,Nadia Bahi-Buisson,Isabelle Gourfinkel-An,Isabelle Gourfinkel-An,Cécile Cazeneuve,Merle Ruberg,Merle Ruberg,Alexis Brice,Alexis Brice,Rima Nabbout,Eric LeGuern,Eric LeGuern +29 more
TL;DR: The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism of Dravet syndrome and suggests that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS.
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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
Christel Depienne,Oriane Trouillard,Cécile Saint-Martin,Isabelle Gourfinkel-An,Delphine Bouteiller,Wassila Carpentier,Boris Keren,B Abert,Agnès Gautier,Stéphanie Baulac,Alexis Arzimanoglou,Cécile Cazeneuve,Rima Nabbout,Eric LeGuern +13 more
TL;DR: This mutation spectrum, including whole gene deletions, argues in favour of haploinsufficiency as the main mechanism responsible for Dravet syndrome.