Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder by Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia by Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

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SCN1A-related epilepsy with recessive inheritance: Two further families by Moretti, Raffaella, Arnaud, Lionel, Bouteiller, Delphine, Trouillard, Oriane, Moreau, Patricia, Buratti, Julien, Rastetter, Agnès, Keren, Boris, Des Portes, Vincent, Toulouse, Joseph, Gourfinkel-An, Isabelle, Leguern, Eric, Depienne, Christel, Mignot, Cyril, Nava, Caroline

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Congenital mirror movements: a clue to understanding bimanual motor control by Galléa, Cécile, Popa, Traian, Billot, Ségolène, Méneret, Aurélie, Depienne, Christel, Roze, Emmanuel

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders by Nava, Caroline, Keren, Boris, Mignot, Cyril, Rastetter, Agnès, Chantot-Bastaraud, Sandra, Faudet, Anne, Fonteneau, Eric, Amiet, Claire, Laurent, Claudine, Jacquette, Aurélia, Whalen, Sandra, Afenjar, Alexandra, Périsse, Didier, Doummar, Diane, Dorison, Nathalie, Leboyer, Marion, Siffroi, Jean-Pierre, Cohen, David, Brice, Alexis, Héron, Delphine, Depienne, Christel

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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability by Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Verloes, Alain, Bole-Feysot, Christine, Nitschké, Patrick, Masson, Cécile, Faudet, Anne, Lesne, Fabien, Bienvenu, Thierry, Alby, Caroline, Attié-Bitach, Tania, Depienne, Christel, Nava, Caroline, Héron, Delphine

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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration by Stevanin, Giovanni, Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo, Loureiro, José, Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence, Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Durr, Alexandra

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Tremor-like subcortical myoclonus in STXBP1 encephalopathy by Loussouarn, Anna, Doummar, Diane, Beaugendre, Yara, Bienvenu, Thierry, Charles, Perrine, Depienne, Christel, Dorison, Nathalie, Heide, Solveig, Héron, Delphine, Ioos, Christine, Keren, Boris, Métreau, Julia, Mochel, Fanny, Moutard, Marie-Laure, Ravelli, Claudia, Apartis, Emmanuelle, Mignot, Cyril

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Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations by Spencer‐Smith, Megan, Knight, Jacquelyn L, Lacaze, Emmanuelle, Depienne, Christel, Lockhart, Paul J, Richards, Linda J, Heron, Delphine, Leventer, Richard J, Robinson, Gail A, Ceslis, Amelia, Gibson, Emily, Giraudat, Kim, McIlroy, Alissandra, Paul, Lynn K, Siffredi, Vanessa, Bahlo, Melanie, Barker, Megan, Blondiaux, Eleonore, Edwards, Timothy J, Garel, Catherine, Heide, Solveig, Keren, Boris, Mandelstam, Simone A, Marsh, Ashley PL, McGillivray, George, Mignot, Cyril, Moutard, Marie‐Laure, Nava, Caroline, Pope, Kate, Rastetter, Agnès, Stephenson, Sarah EM, Valence, Stéphanie, de Villemeur, Thierry Billette, Wood, Amanda, Anderson, Vicki, Sherr, Elliott H

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GABAA Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition by Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice by Yamada, Elizabeth S., Respondek, Gesine, Müssner, Stefanie, de Andrade, Anderson, Höllerhage, Matthias, Depienne, Christel, Rastetter, Agnès, Tarze, Agathe, Friguet, Bertrand, Salama, Mohamed, Champy, Pierre, Oertel, Wolfgang H., Höglinger, Günter U.

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Congenital mirror movements: no mutation in DNAL4 in 17 index cases by Méneret, Aurélie, Trouillard, Oriane, Vidailhet, Marie, Depienne, Christel, Roze, Emmanuel

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RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans by Depienne, Christel, Bouteiller, Delphine, Méneret, Aurélie, Billot, Ségolène, Groppa, Sergiu, Klebe, Stephan, Charbonnier-Beaupel, Fanny, Corvol, Jean-Christophe, Saraiva, Jean-Paul, Brueggemann, Norbert, Bhatia, Kailash, Cincotta, Massimo, Brochard, Vanessa, Flamand-Roze, Constance, Carpentier, Wassila, Meunier, Sabine, Marie, Yannick, Gaussen, Marion, Stevanin, Giovanni, Wehrle, Rosine, Vidailhet, Marie, Klein, Christine, Dusart, Isabelle, Brice, Alexis, Roze, Emmanuel

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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease by Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd, Kuechler, Alma

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Genetic association signal near NTN4 in Tourette syndrome by Paschou, Peristera, Yu, Dongmei, Gerber, Gloria, Evans, Patrick, Tsetsos, Fotis, Davis, Lea K., Karagiannidis, Iordanis, Chaponis, Jonathan, Gamazon, Eric, Mueller-Vahl, Kirsten, Stuhrmann, Manfred, Schloegelhofer, Monika, Stamenkovic, Mara, Hebebrand, Johannes, Noethen, Markus, Nagy, Peter, Barta, Csaba, Tarnok, Zsanett, Rizzo, Renata, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Cath, Danielle C., Budman, Cathy L., Sandor, Paul, Barr, Cathy, Wolanczyk, Thomas, Singer, Harvey, Chou, I-Ching, Grados, Marco, Posthuma, Danielle, Rouleau, Guy A., Aschauer, Harald, Freimer, Nelson B., Pauls, David L., Cox, Nancy J., Mathews, Carol A., Scharf, Jeremiah M.

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GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition by Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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Dalfampridine in hereditary spastic paraplegia: a prospective, open study by Béreau, Matthieu, Anheim, Mathieu, Chanson, Jean-Baptiste, Tio, Grégory, Echaniz-Laguna, Andoni, Depienne, Christel, Collongues, Nicolas, de Sèze, Jérôme

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Targeted versus untargeted omics — the CAFSA story by del Mar Amador, Maria, Colsch, Benoit, Lamari, Foudil, Jardel, Claude, Ichou, Farid, Rastetter, Agnès, Sedel, Frédéric, Jourdan, Fabien, Frainay, Clément, Wevers, Ronald A., Roze, Emmanuel, Depienne, Christel, Junot, Christophe, Mochel, Fanny

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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia by Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis

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