High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Autor: Patrick Cossette, Zoha Kibar, Maxime Cadieux-Dion, Helen Brittain, Andrew E. Fry, Emily Fassi, Edward Blair, Simone Martinelli, Paul J. Benke, Guy D'Anjou, Alexandre D. Laporte, Berge A. Minassian, Sylvia Stockler, Tyson L Ware, David R. FitzPatrick, Weimin Bi, Amy L Schneider, Jill A. Rosenfeld, Shekeeb S. Mohammad, Jacques L. Michaud, Carlos A. Bacino, Joss Shelagh, Samuel F. Berkovic, Stéphane Auvin, Yunru Shao, Sylvia Dobrzeniecka, Kelly Mo, Cory Tam, Nicole Corsten-Janssen, Wendy K. Chung, Renee-Myriam Boucher, Alain Verloes, Fadi F. Hamdan, Bronwyn Kerr, Frédéric Tran Mau-Them, Martina Bebin, Philippe M. Campeau, Dara V.F. Albert, Guy A. Rouleau, Quinn Stein, Anne Lortie, Susan M. Hiatt, Lubov Blumkin, Boris Keren, Dan Spiegelman, Saadet Mercimek-Mahmutoglu, Ronald G. Lafrenière, Marie-Christine Nougues, Rhys H. Thomas, Erica H. Gerkes, Elsa Rossignol, Bruno Dallapiccola, Klaas J. Wierenga, Natalie Canham, Monica H. Wojcik, Caroline Meloche, Moira Blyth, Cyril Mignot, Heather C Mefford, Ledia Brunga, D. L. Jones, François Dubeau, Kyle Retterer, James J. O'Byrne, Christine Massicotte, Vincenzo Leuzzi, Caroline Nava, Ingrid E. Scheffer, Erik-Jan Kamsteeg, Cyrus Boelman, Megan T. Cho, Gabriela Purcarin, Brigid M. Regan, Jean Monlong, Simon Girard, Philippe Major, Marguerite Miguet, Katrin Õunap, Yu Chi Liu, Guillaume Bourque, Myriam Srour, Ousmane Diallo, Emilie Riou, Lionel Carmant, Seema R. Lalani, Christina Nassif, Robert Roger Lebel, Anna Lehman, Georgie Hollingsworth, Stéphanie Jacques, Sunita Venkateswaran, Marco Tartaglia, Candace T. Myers, Ange-Line Bruel, Danielle M. Andrade, Imad Jarjour, Peyman Bizargity, Sara J. Dorison, Jane A. Hurst, Richard E. Frye, Lynette G. Sadleir, Alan Donaldson, Fernando Scaglia, Philippe Lemay, Paola Diadori, Laura Davis-Keppen

Publikováno v: American Journal of Human Genetics, 101, 664-685
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. 〈10.1016/j.ajhg.2017.09.008〉
American Journal of Human Genetics, 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, 101(5), 664-685. CELL PRESS
Hamdan, F F, Myers, C T, Cossette, P, Lemay, P, Spiegelman, D, Laporte, A D, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, M T, Rosenfeld, J A, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, B M, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, D R, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, A E, Thomas, R H, Shelagh, J, Hurst, J A, Brittain, H, Blyth, M, Lebel, R R, Gerkes, E H, Davis-Keppen, L, Stein, Q, Chung, W K, Dorison, S J, Benke, P J, Fassi, E, Corsten-Janssen, N, Kamsteeg, E-J, Mau-Them, F T, Bruel, A-L, Verloes, A & Õunap, K & Wojcik, M H 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics, vol. 101, no. 5, pp. 664-685 . https://doi.org/10.1016/j.ajhg.2017.09.008
American Journal of Human Genetics, 101, 5, pp. 664-685
Kerr, B & et al 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.09.008

Item does not contain fulltext Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6b43223d1c8b9217763bad5e995f37
http://hdl.handle.net/2066/182558

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

Autor: Karine Lachapelle, Daniel Rochefort, Amélie Piton, Sylvia Dobrzeniecka, Loubna Jouan, Guy A. Rouleau, Julie Gauthier, Patrick A. Dion

Publikováno v: European Journal of Human Genetics. 21:749-756

A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f63fb879dcbd400a4c90cf278ee58b1b
https://doi.org/10.1038/ejhg.2012.243

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

Autor: Kiyomi Nishiyama, Jacques L. Michaud, Fadi F. Hamdan, Naomichi Matsumoto, Jean-Claude Lacaille, Sylvia Dobrzeniecka, Dan Spiegelman, Guy A. Rouleau, Hirotomo Saitsu, Julie Gauthier, Jean-Claude Décarie

Publikováno v: European Journal of Human Genetics. 20:796-800

Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy. These m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31496afc5648458ec4a7045b23fd7c18
https://doi.org/10.1038/ejhg.2011.271

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

Autor: Fadi F, Hamdan, Julie, Gauthier, Dan, Spiegelman, Anne, Noreau, Yan, Yang, Stéphanie, Pellerin, Sylvia, Dobrzeniecka, Mélanie, Côté, Elizabeth, Perreau-Linck, Elizabeth, Perreault-Linck, Lionel, Carmant, Guy, D'Anjou, Eric, Fombonne, Anjene M, Addington, Judith L, Rapoport, Lynn E, Delisi, Marie-Odile, Krebs, Faycal, Mouaffak, Ridha, Joober, Laurent, Mottron, Pierre, Drapeau, Claude, Marineau, Ronald G, Lafrenière, Jean Claude, Lacaille, Guy A, Rouleau, Jacques L, Michaud

Publikováno v: New England Journal of Medicine. 360:599-605

Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf469b63ad616f66be1351ab00c4f7eb
https://doi.org/10.1056/nejmoa0805392

Parent-child exome sequencing identifiesade novotruncating mutation inTCF4in non-syndromic intellectual disability

Autor: Jacques L. Michaud, Guy A. Rouleau, Lysanne Patry, Hussein Daoud, Alexandre Dionne-Laporte, Dan Spiegelman, Sylvia Dobrzeniecka, Fadi F. Hamdan

Publikováno v: Clinical Genetics. 83:198-200

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::79f99d19df001656bae5b2021cde1be0
https://doi.org/10.1111/j.1399-0004.2012.01890.x