25 results on '"Jacquette, Aurelia"'
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2. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
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Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, and Collins, D. Louis
- Published
- 2019
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3. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
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Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Clement, Emma, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Dennis, Anna, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Pizzino, Amy, Manning, Melanie Ann, Slattery, Leah, Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, and Kooy, R. Frank
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- 2019
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4. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
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Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Alupay, Hanalore, Aaronson, Benjamin, Ackerman, Sean, Ankenman, Katy, Anwar, Ayesha, Atwell, Constance, Bowe, Alexandra, Beaudet, Arthur L., Benedetti, Marta, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Bibb, Audrey L., Blaskey, Lisa, Brennan, Jonathan, Brewton, Christie M., Buckner, Randy, Bukshpun, Polina, Burko, Jordan, Cali, Phil, Cerban, Bettina, Chang, Yishin, Cheong, Maxwell, Chow, Vivian, Chu, Zili, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dell, John, Dempsey, Allison G., Deschamps, Trent, Earl, Rachel, Edgar, James, Elgin, Jenna, Olson, Jennifer Endre, Evans, Yolanda L., Findlay, Anne, Fischbach, Gerald D., Fisk, Charlie, Fregeau, Brieana, Gaetz, Bill, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Gobuty, Sarah E., Golembski, Rachel, Greenup, Marion, Heiken, Kory, Hines, Katherine, Hinkley, Leighton, Jackson, Frank I., Jenkins, Julian, III, Jeremy, Rita J., Johnson, Kelly, Kanne, Stephen M., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Kuschner, Emily, Laakman, Anna L., Lam, Peter, Lasala, Morgan W., Lee, Hana, LaGuerre, Kevin, Levy, Susan, Cavanagh, Alyss Lian, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., Marco, Elysa J., Martin, Stephen, Martin, Alastair J., Marzano, Gabriela, Masson, Christina, McGovern, Kathleen E., McNally Keehn, Rebecca, Miller, David T., Miller, Fiona K., Moss, Timothy J., Murray, Rebecca, Nagarajan, Srikantan S., Nowell, Kerri P., Owen, Julia, Paal, Andrea M., Packer, Alan, Page, Patricia Z., Paul, Brianna M., Peters, Alana, Peterson, Danica, Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Qasmieh, Saba, Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Shaw, Dennis, Sinha, Tuhin, Smith-Packard, Bethanny, Gallagher, Anne Snow, Swarnakar, Vivek, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Wolken, Anne, Martin-Brevet, Sandra, Rodríguez-Herreros, Borja, Nielsen, Jared A., Moreau, Clara, Modenato, Claudia, Maillard, Anne M., Pain, Aurélie, Richetin, Sonia, Jønch, Aia E., Qureshi, Abid Y., Zürcher, Nicole R., Conus, Philippe, Chung, Wendy K., Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Beckmann, Jacques S., Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L., Draganski, Bogdan, and Jacquemont, Sébastien
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- 2018
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5. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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Heide, Solveig, Keren, Boris, Billette de Villemeur, Thierry, Chantot-Bastaraud, Sandra, Depienne, Christel, Nava, Caroline, Mignot, Cyril, Jacquette, Aurélia, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, Whalen, Sandra, Lacombe, Didier, Naudion, Sophie, Rooryck, Caroline, Toutain, Annick, Caignec, Cédric Le, Haye, Damien, Olivier-Faivre, Laurence, Masurel-Paulet, Alice, Thauvin-Robinet, Christel, Lesne, Fabien, Faudet, Anne, Ville, Dorothée, des Portes, Vincent, Sanlaville, Damien, Siffroi, Jean-Pierre, Moutard, Marie-Laure, and Héron, Delphine
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- 2017
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6. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
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Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., and Kleefstra, Tjitske
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- 2016
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7. Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1
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Douniol, Marie, Jacquette, Aurelia, Cohen, David, Bodeau, Nicolas, Rachidi, Linda, Angeard, Nathalie, Cuisset, Jean-Marie, Vallee, Louis, Eymard, Bruno, Plaza, Monique, Heron, Delphine, and Guile, Jean-Marc
- Abstract
Aim: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). Method: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities. Results: Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04). Interpretation: Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities. (Contains 3 tables and 1 figure.)
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- 2012
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8. A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1)
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Angeard, Nathalie, Jacquette, Aurélia, Gargiulo, Marcela, Radvanyi, Hélène, Moutier, Sylvain, Eymard, Bruno, and Héron, Delphine
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- 2011
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9. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
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Rouxel, Flavien, primary, Yauy, Kevin, additional, Boursier, Guilaine, additional, Gatinois, Vincent, additional, Barat-Houari, Mouna, additional, Sanchez, Elodie, additional, Lacombe, Didier, additional, Arpin, Stéphanie, additional, Giuliano, Fabienne, additional, Haye, Damien, additional, Rio, Marlène, additional, Toutain, Annick, additional, Dieterich, Klaus, additional, Brischoux-Boucher, Elise, additional, Julia, Sophie, additional, Nizon, Mathilde, additional, Afenjar, Alexandra, additional, Keren, Boris, additional, Jacquette, Aurelia, additional, Moutton, Sebastien, additional, Jacquemont, Marie-Line, additional, Duflos, Claire, additional, Capri, Yline, additional, Amiel, Jeanne, additional, Blanchet, Patricia, additional, Lyonnet, Stanislas, additional, Sanlaville, Damien, additional, and Genevieve, David, additional
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- 2021
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10. Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment?
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Angeard, Nathalie, Gargiulo, Marcela, Jacquette, Aurélia, Radvanyi, Hélène, Eymard, Bruno, and Héron, Delphine
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- 2007
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11. Sleep disorders in childhood-onset myotonic dystrophy type 1
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Quera Salva, Maria-Antonia, Blumen, Marc, Jacquette, Aurelia, Durand, Marie-Christine, Andre, Sonia, De Villiers, Martine, Eymard, Bruno, Lofaso, Frédéric, and Heron, Delphine
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- 2006
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12. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
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Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, and Giurgea, Irina
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- 2012
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13. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
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El Chehadeh, Salima, Aral, Bernard, Gigot, Nadege, Thauvin-Robinet, Christel, Donzel, Anne, Delrue, Marie-Ange, Lacombe, DIdier, David, Albert, Burglen, Lydie, Philip, Nicole, Moncla, Anne, Cormier-Diare, Valerie, Rio, Marlene, Edery, Patrick, Verloes, Alain, Bonneau, Dominique, Afenjar, Alexandra, Jacquette, Aurelia, Heron, Delphine, Sarda, Pierre, Pinson, Lucile, Doray, Berenice, Vigneron, Jacqueline, Leheup, Bruno, Frances-Guidet, Anne-Marie, Dienne, Gwenaelle, Holder, Muriel, Masurel-Paulet, Alice, Huet, Frederic, Teyssier, Jean-Raymond, and Faivre, Laurence
- Subjects
Cohen syndrome -- Diagnosis ,Cohen syndrome -- Genetic aspects ,Cohen syndrome -- Development and progression ,Cohen syndrome -- Research ,Gene mutations -- Research ,Health - Published
- 2010
14. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
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Van Dijck, Anke, primary, Vulto-van Silfhout, Anneke T., additional, Cappuyns, Elisa, additional, van der Werf, Ilse M., additional, Mancini, Grazia M., additional, Tzschach, Andreas, additional, Bernier, Raphael, additional, Gozes, Illana, additional, Eichler, Evan E., additional, Romano, Corrado, additional, Lindstrand, Anna, additional, Nordgren, Ann, additional, Kvarnung, Malin, additional, Kleefstra, Tjitske, additional, de Vries, Bert B.A., additional, Küry, Sébastien, additional, Rosenfeld, Jill A., additional, Meuwissen, Marije E., additional, Vandeweyer, Geert, additional, Kooy, R. Frank, additional, Bakshi, Madhura, additional, Wilson, Meredith, additional, Berman, Yemina, additional, Dickson, Rebecca, additional, Fransen, Erik, additional, Helsmoortel, Céline, additional, Van den Ende, Jenneke, additional, Van der Aa, Nathalie, additional, van de Wijdeven, Marina J., additional, Rosenblum, Jessica, additional, Monteiro, Fabíola, additional, Kok, Fernando, additional, Quercia, Nada, additional, Bowdin, Sarah, additional, Dyment, David, additional, Chitayat, David, additional, Alkhunaizi, Ebba, additional, Boonen, Susanne E., additional, Keren, Boris, additional, Jacquette, Aurelia, additional, Faivre, Laurence, additional, Bezieau, Stephane, additional, Isidor, Bertrand, additional, Rieß, Angelika, additional, Moog, Ute, additional, Lynch, Sally Ann, additional, McVeigh, Terri, additional, Elpeleg, Orly, additional, Smeland, Marie Falkenberg, additional, Fannemel, Madeleine, additional, van Haeringen, Arie, additional, Maas, Saskia M., additional, Veenstra-Knol, H.E., additional, Schouten, Meyke, additional, Willemsen, Marjolein H., additional, Marcelis, Carlo L., additional, Ockeloen, Charlotte, additional, van der Burgt, Ineke, additional, Feenstra, Ilse, additional, van der Smagt, Jasper, additional, Jezela-Stanek, Aleksandra, additional, Krajewska-Walasek, Malgorzata, additional, González-Lamuño, Domingo, additional, Anderlid, Britt-Marie, additional, Malmgren, Helena, additional, Nordenskjöld, Magnus, additional, Clement, Emma, additional, Hurst, Jane, additional, Metcalfe, Kay, additional, Mansour, Sahar, additional, Lachlan, Katherine, additional, Clayton-Smith, Jill, additional, Hendon, Laura G., additional, Abdulrahman, Omar A., additional, Morrow, Eric, additional, McMillan, Clare, additional, Gerdts, Jennifer, additional, Peeden, Joseph, additional, Schrier Vergano, Samantha A., additional, Valentino, Caitlin, additional, Chung, Wendy K., additional, Ozmore, Jillian R., additional, Bedrosian-Sermone, Sandra, additional, Dennis, Anna, additional, Treat, Kayla, additional, Hughes, Susan Starling, additional, Safina, Nicole, additional, Le Pichon, Jean-Baptiste, additional, McGuire, Marianne, additional, Infante, Elena, additional, Madan-Khetarpal, Suneeta, additional, Desai, Sonal, additional, Benke, Paul, additional, Krokosky, Alyson, additional, Cristian, Ingrid, additional, Baker, Laura, additional, Gripp, Karen, additional, Stessman, Holly A., additional, Eichenberger, Jacob, additional, Jayakar, Parul, additional, Pizzino, Amy, additional, Manning, Melanie Ann, additional, and Slattery, Leah, additional
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- 2019
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15. Finger creases lend a hand in Kabuki syndrome
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Michot, Caroline, Corsini, Carole, Sanlaville, Damien, Baumann, Clarisse, Toutain, Annick, Philip, Nicole, Busa, Tiffany, Holder, Muriel, Faivre, Laurence, Odent, Sylvie, Delrue, Marie-Ange, Till, Marianne, Jacquemont, Marie-Line, Cordier, Marie-Pierre, Goldenberg, Alice, Sanchez, Elodie, Alix, Eudeline, Poisson, Sylvain, Kayirangwa, Honorine, Lacombe, Didier, Gilbert-Dussardier, Brigitte, Pelet, Anna, Roume, Joëlle, Jacquette, Aurélia, Isidor, Bertrand, Giuliano, Fabienne, Burglen, Lydie, Fradin, Mélanie, Schaefer, Elise, Alembick, Yves, Doray, Bérénice, Moncla, Anne, Héron, Delphine, Willems, Marjolaine, Pinson, Lucile, Le Quan Sang, Kim Hanh, Le Merrer, Martine, Cormier-Daire, Valérie, Sarda, Pierre, Amiel, Jeanne, Lyonnet, Stanislas, and Geneviève, David
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- 2013
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16. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
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de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C, EuroEPINOMICS-RES MAE working group, de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C, and EuroEPINOMICS-RES MAE working group
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- 2016
17. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
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de Lange, Iris M., Helbig, Katherine L., Weckhuysen, Sarah, Møller, Rikke S., Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C., Myers, Candace T., van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G.F., Piard, Juliette, Minassian, Berge A., Nezarati, Marjan M., Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H., Koeleman, Bobby P.C., Craiu, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Guerrini, Renzo, Lehesjoki, Anna Elina, Marini, Carla, Muhle, Hiltrud, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Talvik, Tiina, von Spiczak, Sarah, Caglayan, Hande, Weber, Yvonne, Hoffman-Zacharska, Dorota, de Lange, Iris M., Helbig, Katherine L., Weckhuysen, Sarah, Møller, Rikke S., Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C., Myers, Candace T., van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G.F., Piard, Juliette, Minassian, Berge A., Nezarati, Marjan M., Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H., Koeleman, Bobby P.C., Craiu, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Guerrini, Renzo, Lehesjoki, Anna Elina, Marini, Carla, Muhle, Hiltrud, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Talvik, Tiina, von Spiczak, Sarah, Caglayan, Hande, Weber, Yvonne, and Hoffman-Zacharska, Dorota
- Abstract
Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. Results All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Conclusions Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.
- Published
- 2016
18. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
- Author
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Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Brain, Genetica Groep Koeleman, Circulatory Health, de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C, EuroEPINOMICS-RES MAE working group, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Brain, Genetica Groep Koeleman, Circulatory Health, de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C, and EuroEPINOMICS-RES MAE working group
- Published
- 2016
19. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
- Author
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Tabet, Anne-Claude, primary, Verloes, Alain, additional, Pilorge, Marion, additional, Delaby, Elsa, additional, Delorme, Richard, additional, Nygren, Gudrun, additional, Devillard, Françoise, additional, Gérard, Marion, additional, Passemard, Sandrine, additional, Héron, Delphine, additional, Siffroi, Jean-Pierre, additional, Jacquette, Aurelia, additional, Delahaye, Andrée, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Aboura, Azzedine, additional, Bitoun, Pierre, additional, Coleman, Mary, additional, Leboyer, Marion, additional, Gillberg, Christopher, additional, Benzacken, Brigitte, additional, and Betancur, Catalina, additional
- Published
- 2015
- Full Text
- View/download PDF
20. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
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Whalen, Sandra, primary, Héron, Delphine, additional, Gaillon, Thierry, additional, Moldovan, Oana, additional, Rossi, Massimiliano, additional, Devillard, Françoise, additional, Giuliano, Fabienne, additional, Soares, Gabriela, additional, Mathieu-Dramard, Michelle, additional, Afenjar, Alexandra, additional, Charles, Perrine, additional, Mignot, Cyril, additional, Burglen, Lydie, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Aftimos, Salim, additional, Mancini, Grazia, additional, Dias, Patricia, additional, Philip, Nicole, additional, Goldenberg, Alice, additional, Le Merrer, Martine, additional, Rio, Marlène, additional, Josifova, Dragana, additional, Van Hagen, Johanna Maria, additional, Lacombe, Didier, additional, Edery, Patrick, additional, Dupuis-Girod, Sophie, additional, Putoux, Audrey, additional, Sanlaville, Damien, additional, Fischer, Richard, additional, Drévillon, Loïc, additional, Briand-Suleau, Audrey, additional, Metay, Corinne, additional, Goossens, Michel, additional, Amiel, Jeanne, additional, Jacquette, Aurelia, additional, and Giurgea, Irina, additional
- Published
- 2011
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21. Compound Heterozygosity for Two New Mutations in the β‐Globin Gene [Codon 9 (+ TA) and Polyadenylation Site (AATAAA→AAAAAA)] Leads to Thalassemia Intermedia in a Tunisian Patient
- Author
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Jacquette, Aurelia, primary, Le Roux, Geneviève, additional, Lacombe, Chantal, additional, Goossens, Michel, additional, and Pissard, Serge, additional
- Published
- 2004
- Full Text
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22. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- Author
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Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, van der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, MacKay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, de Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, de Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela QCM, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, DiDonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, DeeDee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, and Reymond, A
- Abstract
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes., Version of Record
- Published
- 2016
- Full Text
- View/download PDF
23. Detecting small Copy Number Variations, smaller than 400 kb, improves the diagnostic yield of CMA in intellectual disability
- Author
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Faoucher, Marie, Fonteneau, Eric, Chatron, Nicolas, Depienne, Christel, Labalme, Audrey, Lejeune, Elodie, Till, Marianne, Mignot, Cyril, Schluth-Bolard, Caroline, Nava, Caroline, Putoux, Audrey, Lesca, Gaetan, Mochel, Fanny, Alex, Marie-Pierre, Jacquette, Aurelia, Massimiliano Rossi, Heron, Delphine, Edery, Patrick, Brice, Alexis, Sanlaville, Damien, and Keren, Boris
24. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- Author
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Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A, 2p15 Consortium, and 16p11 2 Consortium
- Abstract
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.
25. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
- Author
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de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, van 't Slot R, Van Maldergem L, Brilstra EH, and Koeleman BP
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, X, Codon, Nonsense, Drug Resistant Epilepsy genetics, Female, Genes, X-Linked, Heterozygote, Humans, Intellectual Disability genetics, Middle Aged, Syndrome, Drug Resistant Epilepsy metabolism, Frameshift Mutation, Intellectual Disability metabolism, Mosaicism, Nerve Tissue Proteins genetics, X Chromosome Inactivation
- Abstract
Background: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy., Methods: Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible., Results: All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles., Conclusions: Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy., Competing Interests: KLH and ST are employed by and receive a salary from Ambry Genetics. BAM was supported by Genome Canada and the Ontario Brain Institute. BM, SB and SS are funded by the Epilepsy Society and Wellcome Trust. Part of this work was undertaken at University College London Hospitals, which received a proportion of funding from the NIHR Biomedical Research Centres funding scheme., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)
- Published
- 2016
- Full Text
- View/download PDF
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