The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 von Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén

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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum von Santos-Gomez, Ana, Miguez-Cabello, Federico, Julia-Palacios, Natalia, Garcia-Navas, Deyanira, Soto-Insuga, Victor, Garcia-Penas, Juan J., Fuentes, Patricia, Ibanez-Mico, Salvador, Cuesta, Laura, Cancho, Ramon, Andreo-Lillo, Patricia, Gutierrez-Aguilar, Gema, Alonso-Luengo, Olga, Malaga, Ignacio, Hedrera-Fernandez, Antonio, Garcia-Cazorla, Angels, Soto, David, Olivella, Mireia, Altafaj, Xavier

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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases von Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura, Paula Sol, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Seuma, Agustí Rodríguez-Palmero, del Mar Martínez-Colls, Maria, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, del Toro Riera, Mireia, Felipe-Rucián, Ana, Giralt-López, Maria, Cortès-Saladelafont, Elisenda

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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study von Juliá-Palacios, Natalia, Olivella, Mireia, Sigatullina Bondarenko, Mariya, Ibáñez-Micó, Salvador, Muñoz-Cabello, Beatriz, Alonso-Luengo, Olga, Soto-Insuga, Víctor, García-Navas, Deyanira, Cuesta-Herraiz, Laura, Andreo-Lillo, Patricia, Aguilera-Albesa, Sergio, Hedrera-Fernández, Antonio, González Alguacil, Elena, Sánchez-Carpintero, Rocío, Martín Del Valle, Fernando, Jiménez González, Erika, Cean Cabrera, Lourdes, Medina-Rivera, Ines, Perez-Ordoñez, Marta, Colomé, Roser, Lopez, Laura, Engracia Cazorla, María, Fornaguera, Montserrat, Ormazabal, Aida, Alonso-Colmenero, Itziar, Illescas, Katia Sofía, Balsells-Mejía, Sol, Mari-Vico, Rosanna, Duffo Viñas, Maria, Cappuccio, Gerarda, Terrone, Gaetano, Romano, Roberta, Manti, Filippo, Mastrangelo, Mario, Alfonsi, Chiara, de Siqueira Barros, Bruna, Nizon, Mathilde, Gjerulfsen, Cathrine Elisabeth, Muro, Valeria L, Karall, Daniela, Zeiner, Fiona, Masnada, Silvia, Peterlongo, Irene, Oyarzábal, Alfonso, Santos-Gómez, Ana, Altafaj, Xavier, García-Cazorla, Ángeles

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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies von Parrado, Antonio, Rubio, Gonzalo, Serrano, Mercedes, De la Morena-Barrio, María Eugenia, Ibáñez-Micó, Salvador, Ruiz-Lafuente, Natalia, Schwartz-Albiez, Reinhard, Esteve-Solé, Ana, Alsina, Laia, Corral, Javier, Hernández-Caselles, Trinidad

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome von Serafim, Ana Beatriz, Olivé-Cirera, Gemma, Ortega-González, Ángel, Kruer, Michael C, Weese-Mayer, Debra, Rand, Casey M, Fons, Carmen, Fernández-Ramos, Joaquín Alejandro, Clemente, Maria, Simabukuro, Mateus Mistieri, Embiruçu, Emilia Katiane, Ibáñez-Micó, Salvador, Dalmau, Josep O, Graus, Francesc, Armangué, Thais, Sabater, Lidia

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Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients von Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael

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Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy von Araújo-Vilar, David, Domingo-Jiménez, Rosario, Ruibal, Álvaro, Aguiar, Pablo, Ibáñez-Micó, Salvador, Garrido-Pumar, Miguel, Martínez-Olmos, Miguel Ángel, López-Soler, Concepción, Guillín-Amarelle, Cristina, González-Rodríguez, María, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Liñares-Paz, Mercedes, González-Méndez, Blanca, Rodríguez-García, Silvia, Sánchez-Iglesias, Sofía

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Transición de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable von Casas Fernández, Carlos, Alarcón Martínez, Helena, Martínez Salcedo, Eduardo, Ibáñez Micó, Salvador

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Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común von Díaz Córcoles, Rocío, Ibáñez Micó, Salvador, Ballesta Martínez, María Juliana, Vives Piñera, Inmaculada, Domingo Jiménez, Rosario

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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells von Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M, Nadif Kasri, Nael, Boronat i Llop, Susanna, 1965, Ibáñez-Micó, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez Jurado, Luis Alberto, Aznar Laín, Gemma, Ortigoza Escobar, Juan Darío, de Vries, Bert B. A, Koolen, David A, Weksberg, Rosanna

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Effect of a physical exercise program supported by wearable technology in children with drug-resistant epilepsy. A randomized controlled trial von Ibañez-Micó, Salvador, Gil-Aparicio, Rosa, Gómez-Conesa, Antonia

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Epilepsy in Biotinidase Deficiency After Biotin Treatment von Micó, Salvador Ibáñez, Jiménez, Rosario Domingo, Salcedo, Eduardo Martínez, Martínez, Helena Alarcón, Mira, Alberto Puche, Fernández, Carlos Casas

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Thöny, Beat, Blau, Nenad

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Spanish translation, cross-cultural adaptation, and initial assessment of psychometric properties of the Life in Childhood Epilepsy Questionnaire (QOLCE-16) von Ibáñez-Micó, Salvador, Velandrino-Nicolás, Antonio, Gómez-Conesa, Antonia

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Paradigmatic de novo GRIN1 variants recapitulate pathophysiological mechanisms underlying GRIN1-related disorder clinical spectrum von Santos Gómez, Ana, Miguez Cabello, Federico, Juliá Palacios, Natalia, García Navas, Deyanira, Soto Insuga, Víctor, García Peñas, Juan J, Fuentes, Patricia, Ibáñez Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo Lillo, Patricia, Gutiérrez Aguilar, Gema, Alonso Luengo, Olga, Málaga, Ignacio, Hedrera Fernández, Antonio, García Cazorla, Àngels, Soto del Cerro, David, Olivella, Mireia, Altafaj, Xavier

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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Cross-cultural validation and psychometric properties of the Spanish version of the quality of life in Childhood epilepsy Questionnaire (QOLCE-55) von Ibañez-Micó, Salvador, López-Pina, José A., Gómez-Conesa, Antonia

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Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes von González-Rodríguez, Juan D, Inglés-Torres, Esther Q, Cabrera-Sevilla, José E, Ibáñez-Micó, Salvador, Bermejo-Costa, Francisca, Vera-Carbonell, Ascensión, Bafalliu-Vidal, Juan A, Cortés-Mora, Pedro, Lorente-Nicolás, Ana, Donate-Legaz, José María

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