Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae

by Meijiang Liao, Uday Kundap, Richard E. Rosch, Dominic R. W. Burrows, Martin P. Meyer, Bouchra Ouled Amar Bencheikh, Patrick Cossette, Éric Samarut
Published 2019-11-01

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.

by Alexandre Montpetit, Stéphanie Côté, Edna Brustein, Christian A Drouin, Line Lapointe, Michèle Boudreau, Caroline Meloche, Régen Drouin, Thomas J Hudson, Pierre Drapeau, Patrick Cossette
Published 2008-12-01

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-02-01

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-04-01

Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells.

by Sarah Pickles, Maxime Cadieux-Dion, Jorge I Alvarez, Marc-Andre Lécuyer, Sarah L Peyrard, Laurie Destroismaisons, Lydia St-Onge, Simone Terouz, Patrick Cossette, Alexandre Prat, Christine Vande Velde
Published 2013-01-01

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

by Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
Published 2018-04-01

Genetic Variation in <i>PADI6-PADI4</i> on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy

by Russell J. Buono, Jonathan P. Bradfield, Zhi Wei, Michael R. Sperling, Dennis J. Dlugos, Michael D. Privitera, Jacqueline A. French, Warren Lo, Patrick Cossette, Steven C. Schachter, Heather Basehore, Falk W. Lohoff, Struan F. A. Grant, Thomas N. Ferraro, Hakon Hakonarson
Published 2021-09-01

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

by Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette
Published 2021-07-01