Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype von Peixoto de Barcelos, Isabella, Bueno, Clarissa, S. Godoy, Luís Filipe, Pessoa, André, A. Costa, Larissa, C. Monti, Fernanda, Souza-Cabral, Katiane, Listik, Clarice, Castro, Diego, Della-Ripa, Bruno, Freua, Fernando, C. Pires, Laís, T. Krüger, Lia, D. Gherpelli, José Luiz, B. Piazzon, Flavia, P. Monteiro, Fabiola, T. Lucato, Leandro, Kok, Fernando

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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability von Armengol, Victor D, Darras, Basil T, Abulaban, Ahmad A, Alshehri, Ali, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Guenther, Castiglioni, Claudia, Chien, Yin-Hsiu, Farrar, Michelle A, Kandawasvika, Gwendoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia B, Pitarch Castellano, Inmaculada, Quijano-Roy, Susana, Saito, Kayoko, Shin, Jin-Hong, Vázquez-Costa, Juan F, Walter, Maggie C, Wanigasinghe, Jithangi, Xiong, Hui, Griggs, Robert C, Roy, Bhaskar

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Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability von Novo-Filho, Gil M., Montenegro, Marília M., Zanardo, Évelin A., Dutra, Roberta L., Dias, Alexandre T., Piazzon, Flavia B., Costa, Taís V.M.M., Nascimento, Amom M., Honjo, Rachel S., Kim, Chong A., Kulikowski, Leslie D.

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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior von Dutra, Roberta L., Piazzon, Flavia B., Zanardo, Évelin A., Costa, Thais Virginia Moura Machado, Montenegro, Marília M., Novo-Filho, Gil M., Dias, Alexandre T., Nascimento, Amom M., Kim, Chong Ae, Kulikowski, Leslie D.

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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications von Christofolini, Denise M, Piazzon, Flavia B, Evo, Carolina, Mafra, Fernanda A, Cosenza, Stella R, Dias, Alexandre T, Barbosa, Caio P, Bianco, Bianca, Kulikowski, Leslie D

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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications von Christofolini, Denise M, Piazzon, Flavia B, Evo, Carolina, Mafra, Fernanda A, Cosenza, Stella R, Dias, Alexandre T, Barbosa, Caio P, Bianco, Bianca, Kulikowski, Leslie D

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency von Coughlin, Curtis R., Tseng, Laura A., Abdenur, Jose E., Ashmore, Catherine, Boemer, François, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, François, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina, Longo, Nicola, Lunsing, Roelineke J., Mills, Philippa, Papadopoulou, Maria T., Pearl, Phillip L., Piazzon, Flavia, Plecko, Barbara, Saini, Arushi G., Santra, Saikat, Sjarif, Damayanti R., Stockler‐Ipsiroglu, Sylvia, Striano, Pasquale, Van Hove, Johan L.K., Verhoeven‐Duif, Nanda M., Wijburg, Frits A., Zuberi, Sameer M., Karnebeek, Clara D.M.

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