30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? von Depienne, Christel, Mandel, Jean-Louis

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Tourette syndrome research highlights from 2020 [version 1; peer review: 2 approved] von Hartmann, Andreas, Atkinson-Clement, Cyril, Depienne, Christel, Black, Kevin

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline von Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C, Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A, Helbig, Katherine L, Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females von 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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Pentameric repeat expansions: cortical myoclonus or cortical tremor? von van Rootselaar, Anne-Fleur, van den Maagdenberg, Arn M J M, Depienne, Christel, Tijssen, Marina A J

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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies von Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions von Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel

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Novel Variants of SOX4 in Patients with Intellectual Disability von Grosse, Martin, Kuechler, Alma, Dabir, Tabib, Spranger, Stephanie, Beck-Wödl, Stefanie, Bertrand, Miriam, Haack, Tobias B, Grasemann, Corinna, Manka, Eva, Depienne, Christel, Kaiser, Frank J

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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study von Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof

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Mutations in the netrin-1 gene cause congenital mirror movements von Méneret, Aurélie, Franz, Elizabeth A, Trouillard, Oriane, Oliver, Thomas C, Zagar, Yvrick, Robertson, Stephen P, Welniarz, Quentin, Gardner, R J MacKinlay, Gallea, Cécile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L, Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie-Pierre, Guérois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A, Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, Markie, David

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A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy von Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef

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Tourette syndrome research highlights from 2020 [version 2; peer review: 3 approved] von Hartmann, Andreas, Atkinson-Clement, Cyril, Depienne, Christel, Black, Kevin

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Evidence of mosaicism in SPAST variant carriers in four French families von Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume

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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome von Chiu, Celine, Küchler, Alma, Depienne, Christel, Preuße, Corinna, Marina, Adela Della, Reis, Andre, Kaiser, Frank J, Nolte, Kay, Hentschel, Andreas, Schara-Schmidt, Ulrike, Kölbel, Heike, Roos, Andreas

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STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients von Mignot, Cyril, Moutard, Marie‐Laure, Trouillard, Oriane, Gourfinkel‐An, Isabelle, Jacquette, Aurélia, Arveiler, Benoit, Morice‐Picard, Fanny, Lacombe, Didier, Chiron, Catherine, Ville, Dorothée, Charles, Perrine, LeGuern, Eric, Depienne, Christel, Héron, Delphine

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PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder von Depienne, Christel, LeGuern, Eric

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability von 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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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype von Lucia-Campos, Cristina, Parenti, Ilaria, Latorre-Pellicer, Ana, Gil-Salvador, Marta, Bestetti, Ilaria, Finelli, Palma, Larizza, Lidia, Arnedo, María, Ayerza-Casas, Ariadna, Del Rincón, Julia, Trujillano, Laura, Morte, Beatriz, Pérez-Jurado, Luis A, Lapunzina, Pablo, Leitão, Elsa, Beygo, Jasmin, Lich, Christina, Kilpert, Fabian, Kaya, Sabine, Depienne, Christel, Kaiser, Frank J, Ramos, Feliciano J, Puisac, Beatriz, Pié, Juan

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly von Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer

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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations von 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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