Unraveling the role of non-coding rare variants in epilepsy by Girard, Alexandre, Moreau, Claudia, Michaud, Jacques L, Minassian, Berge, Cossette, Patrick, Girard, Simon L

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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function by FASSIO, Anna, PATRY, Lysanne, CORRADI, Anna, BALDELLI, Pietro, LAPOINTE, Line, ST-ONGE, Judith, MELOCHE, Caroline, MOTTRON, Laurent, VALTORTA, Flavia, KHOA NGUYEN, Dang, ROULEAU, Guy A, BENFENATI, Fabio, CONGIA, Sonia, COSSETTE, Patrick, ONOFRI, Franco, PITON, Amelie, GAUTHIER, Julie, POZZI, Davide, MESSA, Mirko, DEFRANCHI, Enrico, FADDA, Manuela

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

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Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae by Liao, Meijiang, Kundap, Uday, Rosch, Richard E, Burrows, Dominic R W, Meyer, Martin P, Ouled Amar Bencheikh, Bouchra, Cossette, Patrick, Samarut, Éric

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Revisiting the role of the insula in refractory partial epilepsy by Nguyen, Dang Khoa, Nguyen, Dong Bach, Malak, Ramez, Leroux, Jean‐Maxime, Carmant, Lionel, Saint‐Hilaire, Jean‐Marc, Giard, Normand, Cossette, Patrick, Bouthillier, Alain

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Novel de novo SHANK3 mutation in autistic patients by Gauthier, Julie, Spiegelman, Dan, Piton, Amélie, Lafrenière, Ronald G., Laurent, Sandra, St-Onge, Judith, Lapointe, Line, Hamdan, Fadi F., Cossette, Patrick, Mottron, Laurent, Fombonne, Éric, Joober, Ridha, Marineau, Claude, Drapeau, Pierre, Rouleau, Guy A.

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

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P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy by Olifir, Oleksandr, Moreau, Claudia, Cadieux-Dion, Maxime, Minassian, Berge, Cossette, Patrick, Girard, Simon

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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 by Arsov, Todor, Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Canafoglia, Laura, Bromhead, Catherine J., Andermann, Eva, Vears, Danya F., Cossette, Patrick, Rajagopalan, Sulekha, McDougall, Alan, Sofia, Vito, Farrell, Michael, Aguglia, Umberto, Zini, Andrea, Meletti, Stefano, Morbin, Michela, Mullen, Saul, Andermann, Frederick, Mole, Sara E., Bahlo, Melanie, Berkovic, Samuel F.

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Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy by Patino, Gustavo A, Brackenbury, William J, Bao, Yangyang, Lopez-Santiago, Luis F, O'Malley, Heather A, Chen, Chunling, Calhoun, Jeffrey D, Lafrenière, Ron G, Cossette, Patrick, Rouleau, Guy A, Isom, Lori L

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Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord by Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drouin, Christian A, Lapointe, Line, Boudreau, Michèle, Meloche, Caroline, Drouin, Régen, Hudson, Thomas J, Drapeau, Pierre, Cossette, Patrick

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Assessment of burden and segregation profiles of CNVs in patients with epilepsy by Moreau, Claudia, Tremblay, Frédérique, Wolking, Stefan, Girard, Alexandre, Laprise, Catherine, Hamdan, Fadi F., Michaud, Jacques L., Minassian, Berge A., Cossette, Patrick, Girard, Simon L.

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

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

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

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

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Molecular analysis of the A322D mutation in the GABAA receptor α1-subunit causing juvenile myoclonic epilepsy by Krampfl, Klaus, Maljevic, Snezana, Cossette, Patrick, Ziegler, Elke, Rouleau, Guy A., Lerche, Holger, Bufler, Johannes

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Channelopathies and juvenile myoclonic epilepsy by Cossette, Patrick

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Human copy number variants are enriched in regions of low mappability by Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.

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