A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect von McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.

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Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy von Gomis‐Pérez, Carolina, Urrutia, Janire, Marcé‐Grau, Anna, Malo, Covadonga, López‐Laso, Eduardo, Felipe‐Rucián, Ana, Raspall‐Chaure, Miquel, Macaya, Alfons, Villarroel, Alvaro

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First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL von Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Bellusci, Marcello, Hernández‐Sánchez, Laura, Aragón, Ana Martínez, López‐Laso, Eduardo, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco

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Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity von Tristán‐Noguero, Alba, Borràs, Eva, Molero‐Luis, Marta, Wassenberg, Tessa, Peters, Tessa, Verbeek, Marcel M., Willemsen, Michel, Opladen, Thomas, Jeltsch, Kathrin, Pons, Roser, Thony, Beat, Horvath, Gabriella, Yapici, Zuhal, Friedman, Jennifer, Hyland, Keith, Agosta, Guillermo E., López‐Laso, Eduardo, Artuch, Rafael, Sabidó, Eduard, García‐Cazorla, Àngels

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Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1 von Mateos, Maria Elena, López‐Laso, Eduardo, Vicente, Josefina, Ortega, Rosa, Vázquez, Fernando, Pérez‐Navero, Juan Luis

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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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Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism von Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas

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Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency von Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueéas, Belén, Gil-Campos, Mercedes

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene von Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén

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Clinical phenotypes of infantile onset CACNA1A-related disorder von Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, Blumkin, Lubov

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies von Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya

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Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders von Alfonsi, Chiara, Stephan-Otto, Christian, Cortès-Saladelafont, Elisenda, Palacios, Natalia Juliá, Podzamczer-Valls, Inés, Cruz, Nuria Gutiérrez, Jiménez, María Rosario Domingo, Micó, Salvador Ibáñez, Vila, Miguel Tomás, Jeltsch, Kathrin, Hübschmann, Oya Kuseyri, Opladen, Thomas, Fragua, Ramón Velázquez, Gómez, Teresa, Fortuny, Oscar Alcoverro, Jiménez, Inmaculada García, Laso, Eduardo López, Martínez, Ana Roche, López, Jordi Muchart, Garcia-Cazorla, Àngels

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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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Antes de Truman… y después von Laso, Eduardo

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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes von Fernández-Ramos, Joaquín A., De la Torre-Aguilar, María José, Quintáns, Beatriz, Pérez-Navero, Juan Luis, Beyer, Katrin, López-Laso, Eduardo, Ochoa Sepúlveda, J.J., Serrano Cárdenas, J., Sobrido Gómez, M.J., Mora, M.D., Moreno-Medinilla, E., Ramos, J., Llorente, M., Teva, M.D., Castaño-de la Mota, C., Martínez-Ruiz, J., González Gutierrez-Solana, L., Martí, M.J., Gómez-Esteban, J.C., Hernandez-Vara, J., García Cazorla, Á., Artuch, R., Adarmes, A., Mir, P.

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Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex von Rovira, Àlex, Ruiz-Falcó, María Luz, García-Esparza, Elena, López-Laso, Eduardo, Macaya, Alfons, Málaga, Ignacio, Vázquez, Élida, Vicente, Josefina

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X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy von Fernandez-Moreira, Daniel, Ugalde, Cristina, Smeets, Roel, Rodenburg, Richard J. T., Lopez-Laso, Eduardo, Ruiz-Falco, Maria L., Briones, Paz, Martin, Miguel A., Smeitink, Jan A. M., Arenas, Joaquín

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Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of the GPC3 Gene von Mateos, María Elena, Beyer, Katrin, López-Laso, Eduardo, Siles, Juan López, Pérez-Navero, Juan Luis, Peña, María José, Guzmán, Juana, Matas, Juliana

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Response to nimotuzumab in a child with a progressive diffuse intrinsic pontine glioma von Mateos, María Elena, López‐Laso, Eduardo, Izquierdo, Lucía, Pérez‐Navero, Juan Luis, García, Sonia, Garzás, Cruces

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Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease von López-Laso, Eduardo, Sánchez-Raya, Araceli, Moriana, Juan Antonio, Martínez-Gual, Eduardo, Camino-León, Rafael, Mateos-González, María Elena, Pérez-Navero, Juan Luis, Ochoa-Sepúlveda, Juan José, Ormazabal, Aida, Opladen, Thomas, Klein, Christine, Lao-Villadóniga, José Ignacio, Beyer, Katrin, Artuch, Rafael

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