A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report by Gyening, Yeboah Kofi, Boris, Keren, Cyril, Mignot, Brush, Richard S, Nassogne, Marie-Cécile, Agbaga, Martin-Paul

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females by Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, Leguern, Eric

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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition by Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

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Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy by Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.

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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway by Popov, Ivan K, Hiatt, Susan M, Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M, Korf, Bruce R, Chang, Chenbei

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations by Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., 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, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia by Fedida, Joel, Fressart, Veronique, Charron, Philippe, Surget, Elodie, Hery, Tiphaine, Richard, Pascale, Donal, Erwan, Keren, Boris, Duthoit, Guillaume, Hidden-Lucet, Françoise, Villard, Eric, Gandjbakhch, Estelle

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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity by Vallese, Francesca, Maso, Lorenzo, Giamogante, Flavia, Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Lopreiato, Raffaele, Cendron, Laura, Navazio, Lorella, Zanni, Ginevra, Weber, Yvonne, Kovacevic-Preradovic, Tatjana, Keren, Boris, Torraco, Alessandra, Carrozzo, Rosalba, Peretto, Francesco, Peggion, Caterina, Ferro, Stefania, Marin, Oriano, Zanotti, Giuseppe, Calì, Tito, Brini, Marisa, Carafoli, Ernesto

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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations by Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, Doummar, Diane

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability by Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies by Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 by Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, Bahlo, Melanie

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The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene by Sznajer, Yves, Keren, Boris, Baumann, Clarisse, Pereira, Sabrina, Alberti, Corinne, Elion, Jacques, Cave, Helene, Verloes, Alain

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing by Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins by Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies by Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome by Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael

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PTPN4 germline variants result in aberrant neurodevelopment and growth by Chmielewska, Joanna J., Burkardt, Deepika, Granadillo, Jorge Luis, Slaugh, Rachel, Morgan, Shamile, Rotenberg, Joshua, Keren, Boris, Mignot, Cyril, Escobar, Luis, Turnpenny, Peter, Zuteck, Melissa, Seaver, Laurie H., Ploski, Rafal, Dziembowska, Magdalena, Wynshaw-Boris, Anthony, Adegbola, Abidemi

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Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay by Vermehren-Schmaedick, Anke, Huang, Jeffrey Y, Levinson, Madison, Pomaville, Matthew B, Reed, Sarah, Bellus, Gary A, Gilbert, Fred, Keren, Boris, Heron, Delphine, Haye, Damien, Janello, Christine, Makowski, Christine, Danhauser, Katharina, Fedorov, Lev M, Haack, Tobias B, Wright, Kevin M, Cohen, Michael S

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