Isabelle Gourfinkel-An
Overview
Explore the profile of Isabelle Gourfinkel-An including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
800
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Recent Articles
1.
Calonge Q, Besnard A, Bailly L, Damiano M, Pichit P, Dupont S, et al.
Brain Behav
. 2024 Nov;
14(11):e70122.
PMID: 39501537
Background And Purpose: Around 30% of patients with epilepsy show drug-resistant epilepsy (DRE). While cannabidiol has demonstrated efficacy as an adjunctive treatment in Dravet syndrome (DS), Lennox-Gastaut Syndrome (LGS), and...
2.
Bordes A, El Bendary Y, Goudard G, Masson V, Gourfinkel-An I, Mathon B
Epilepsy Res
. 2023 Nov;
198:107260.
PMID: 38007914
Purpose: Patients with severe drug-resistant epilepsy (DRE) experience psychomotor disorders. Our study aimed to assess the psychomotor outcomes after vagus nerve stimulation (VNS) in this population. Methods: We prospectively evaluated...
3.
Bayat A, Liu Z, Luo S, Fenger C, Hojte A, Isidor B, et al.
Genet Med
. 2023 May;
25(9):100894.
PMID: 37183800
Purpose: The "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome...
4.
Vellieux G, Frazzini V, Pichit P, Dupont S, Gourfinkel-An I, Navarro V
J Neurol
. 2022 May;
269(9):4872-4883.
PMID: 35508811
Background: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of...
5.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, et al.
Eur J Paediatr Neurol
. 2021 Jun;
33:121-124.
PMID: 34174751
Background: Variants in SCN1A gene, encoding the voltage-gated sodium channel Na1.1, are associated with distinct epilepsy syndromes ranging from the relatively benign genetic epilepsy with febrile seizures plus (GEFS+) to...
6.
Mezjan I, Gourfinkel-An I, Degos V, Clemenceau S, Navarro V, Masson V, et al.
Epilepsy Behav
. 2021 Mar;
118:107931.
PMID: 33770612
Purpose: Vagus nerve stimulation (VNS) implantation is increasingly proposed in outpatient procedure. Some epilepsy syndromes are associated with severe neurodevelopmental disabilities (intellectual disability, autism) and often motor or sensory handicaps,...
7.
Rupin-Mas M, Gourfinkel-An I, Arnulf I
Sleep Med
. 2020 Sep;
74:341-342.
PMID: 32949989
No abstract available.
8.
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, et al.
Brain
. 2015 Aug;
138(Pt 10):2859-74.
PMID: 26297560
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we...
9.
Guinchat V, Cravero C, Diaz L, Perisse D, Xavier J, Amiet C, et al.
Res Dev Disabil
. 2015 Jan;
38:242-55.
PMID: 25575287
During adolescence, some individuals with autism spectrum disorder (ASD) engage in severe challenging behaviors, such as aggression, self-injury, disruption, agitation and tantrums. We aimed to assess risk factors associated with...
10.
Tchikviladze M, Gilleron M, Maisonobe T, Galanaud D, Laforet P, Durr A, et al.
J Neurol Neurosurg Psychiatry
. 2014 Aug;
86(6):646-54.
PMID: 25118206
Objective: Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25%...