The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel

Autor: Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

Publikováno v: Frontiers in Cellular Neuroscience, Vol 14 (2020)

The epilepsy of infancy with migrating focal seizures (EIMFS; previously called Malignant migrating partial seizures of infancy) are early-onset epileptic encephalopathies (EOEE) that associate multifocal ictal discharges and profound psychomotor ret

Externí odkaz: https://doaj.org/article/8bb330b9083748019e9f0984ed78b8c0

Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit

Autor: Dmitry A. Sibarov, Nadine Bruneau, Sergei M. Antonov, Pierre Szepetowski, Nail Burnashev, Rashid Giniatullin

Publikováno v: Frontiers in Cellular Neuroscience, Vol 11 (2017)

Genetic variants of the glutamate activated N-methyl-D-aspartate (NMDA) receptor (NMDAR) subunit GluN2A are associated with the hyperexcitable states manifested by epileptic seizures and interictal discharges in patients with disorders of the epileps

Externí odkaz: https://doaj.org/article/f90c5c66c273413b833ce119085849cd

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Autor: Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

Publikováno v: Cell Reports, Vol 1, Iss 1, Pp 2-12 (2012)

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating muta

Externí odkaz: https://doaj.org/article/34f72425695f4e2292e28ed7b26367c7

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

Autor: Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau, Annick Massacrier, Marc Délepine, Philippe Dessen, Vladimir Lazar, Andrée Robaglia-Schlupp, Gaëtan Lesca, Elisabeth Jouve, Gabrielle Rudolf, Jacques Rochette, G Mark Lathrop, Pierre Szepetowski

Publikováno v: PLoS ONE, Vol 5, Iss 10, p e13750 (2010)

BACKGROUND: Benign infantile convulsions and paroxysmal dyskinesia are episodic cerebral disorders that can share common genetic bases. They can be co-inherited as one single autosomal dominant trait (ICCA syndrome); the disease ICCA gene maps at chr

Externí odkaz: https://doaj.org/article/1a1a4866687d406094e2e237a8390462

Magnetofection™ of NMDA Receptor Subunits GluN1 and GluN2A Expression Vectors in Non-Neuronal Host Cells

Autor: Nadine Bruneau, Pierre Szepetowski

Publikováno v: Part of the Methods in Molecular Biology book series
Part of the Methods in Molecular Biology book series, pp.129-135, 2017
Methods in Molecular Biology ISBN: 9781493973200

The functional study of reconstituted NMDA receptors (NMDARs) in host cells requires that the corresponding vectors for the expression of the NMDAR subunits are co-transfected with high efficiency. Magnetofection™ is a technology used to deliver nu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c0097b2842be488d4a371eebff96896
https://hal-amu.archives-ouvertes.fr/hal-01962144