P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy

by Oleksandr Olifir, Claudia Moreau, Maxime Cadieux-Dion, Berge Minassian, Patrick Cossette, Simon Girard
Published 2024-01-01

Unraveling the role of non-coding rare variants in epilepsy

by Alexandre Girard, Claudia Moreau, Jacques L. Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard
Published 2023-01-01

Unraveling the role of non-coding rare variants in epilepsy.

by Alexandre Girard, Claudia Moreau, Jacques L Michaud, Berge Minassian, Patrick Cossette, Simon L Girard
Published 2023-01-01

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

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

by Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, Jacques L. Michaud, Berge A. Minassian, Patrick Cossette, Simon L. Girard
Published 2022-07-01

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

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

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

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

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

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