Single-cell genetic expression of mutant GABA(A) receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

por Lachance-Touchette, Pamela, Choudhury, Mayukh, Stoica, Ana, Di Cristo, Graziella, Cossette, Patrick
Publicado 2014

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation

por Nascimento, Fábio A., Borlot, Felippe, Cossette, Patrick, Minassian, Berge A., Andrade, Danielle M.
Publicado 2015

Human copy number variants are enriched in regions of low mappability

por Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume
Publicado 2018

Unraveling the role of non-coding rare variants in epilepsy

por Girard, Alexandre, Moreau, Claudia, Michaud, Jacques L., Minassian, Berge, Cossette, Patrick, Girard, Simon L.
Publicado 2023

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

por Liao, Meijiang, Kundap, Uday, Rosch, Richard E., Burrows, Dominic R. W., Meyer, Martin P., Ouled Amar Bencheikh, Bouchra, Cossette, Patrick, Samarut, Éric
Publicado 2019

Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

por Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drouin, Christian A., Lapointe, Line, Boudreau, Michèle, Meloche, Caroline, Drouin, Régen, Hudson, Thomas J., Drapeau, Pierre, Cossette, Patrick
Publicado 2008

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

por Lignani, Gabriele, Raimondi, Andrea, Ferrea, Enrico, Rocchi, Anna, Paonessa, Francesco, Cesca, Fabrizia, Orlando, Marta, Tkatch, Tatiana, Valtorta, Flavia, Cossette, Patrick, Baldelli, Pietro, Benfenati, Fabio
Publicado 2013

Polygenic risk scores of several subtypes of epilepsies in a founder population

por Moreau, Claudia, Rébillard, Rose-Marie, Wolking, Stefan, Michaud, Jacques, Tremblay, Frédérique, Girard, Alexandre, Bouchard, Joanie, Minassian, Berge, Laprise, Catherine, Cossette, Patrick, Girard, Simon L.
Publicado 2020

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

por Moreau, Claudia, Tremblay, Frédérique, Wolking, Stefan, Girard, Alexandre, Laprise, Catherine, Hamdan, Fadi F., Michaud, Jacques L., Minassian, Berge A., Cossette, Patrick, Girard, Simon L.
Publicado 2022

Endo-MitoEGFP Mice: A Novel Transgenic Mouse with Fluorescently Marked Mitochondria in Microvascular Endothelial Cells

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

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

por Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Publicado 2018

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

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

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

por Corradi, Anna, Fadda, Manuela, Piton, Amélie, Patry, Lysanne, Marte, Antonella, Rossi, Pia, Cadieux-Dion, Maxime, Gauthier, Julie, Lapointe, Line, Mottron, Laurent, Valtorta, Flavia, Rouleau, Guy A., Fassio, Anna, Benfenati, Fabio, Cossette, Patrick
Publicado 2014

FHF1 (FGF12) epileptic encephalopathy

por Al-Mehmadi, Sameer, Splitt, Miranda, Ramesh, Venkateswaran, DeBrosse, Suzanne, Dessoffy, Kimberly, Xia, Fan, Yang, Yaping, Rosenfeld, Jill A., Cossette, Patrick, Michaud, Jacques L., Hamdan, Fadi F., Campeau, Philippe M., Minassian, Berge A.
Publicado 2016

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

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

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

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

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

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

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

por Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Publicado 2015