Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome von Barbosa-Gouveia, Sofia, Vazquez-Mosquera, Maria E., Gonzalez-Vioque, Emiliano, Hermida-Ameijeiras, Alvaro, Valverde, Laura L., Armstrong-Moron, Judith, Fons-Estupina, Maria del Carmen, Wintjes, Liesbeth T., Kappen, Antonia, Rodenburg, Richard J., Couce, Maria L.

Volltext

Creatine Defects and Central Nervous System von Fons, Carmen, MD, PhD, Campistol, Jaume, MD, PhD

Volltext

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants von Saez-Matia, Alba, Ibarluzea, Markel G, M-Alicante, Sara, Muguruza-Montero, Arantza, Nuñez, Eider, Ramis, Rafael, Ballesteros, Oscar R, Lasa-Goicuria, Diego, Fons, Carmen, Gallego, Mónica, Casis, Oscar, Leonardo, Aritz, Bergara, Aitor, Villarroel, Alvaro

Volltext

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults von Panagiotakaki, Eleni, Gobbi, Giuseppe, Neville, Brian, Ebinger, Friedrich, Campistol, Jaume, Nevšímalová, Soňa, Laan, Laura, Casaer, Paul, Spiel, Georg, Giannotta, Melania, Fons, Carmen, Ninan, Miriam, Sange, Guenter, Schyns, Tsveta, Vavassori, Rosaria, Poncelin, Dominique, Arzimanoglou, Alexis

Volltext

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome von Lazo, Pedro A., Garcia, Juan L., Gomez-Puertas, Paulino, Marcos-Alcalde, Inigo, Arjona, Cesar, Villarroel, Alvaro, Gonzalez-Sarmiento, Rogelio, Fons, Carmen

Volltext

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? von Lopergolo, Diego, Privitera, Flavia, Castello, Giuseppe, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Pinto, Anna Maria, Ariani, Francesca, Currò, Aurora, Lamacchia, Vittoria, Canitano, Roberto, Vaghi, Elisabetta, Ferrarini, Alessandra, Baltodano, Gerardo Mejia, Lederer, Damien, Van Maldergem, Lionel, Serrano, Mercedes, Pineda, Mercè, Fons‐Estupina, Maria Del Carmen, Van Esch, Hilde, Breckpot, Jeroen, Kumps, Candy, Callewaert, Bert, Mueller, Sabrina, Ramelli, Gian Paolo, Armstrong, Judith, Renieri, Alessandra, Mari, Francesca

Volltext

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome von Garcia-Hernandez, Juan L., Corchete, Luis A., Marcos-Alcalde, Inigo, Gomez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A.

Volltext

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype von Jaffer, Fatima, Avbersek, Andreja, Vavassori, Rosaria, Fons, Carmen, Campistol, Jaume, Stagnaro, Michela, De Grandis, Elisa, Veneselli, Edvige, Rosewich, Hendrik, Gianotta, Melania, Zucca, Claudio, Ragona, Francesca, Granata, Tiziana, Nardocci, Nardo, Mikati, Mohamed, Helseth, Ashley R, Boelman, Cyrus, Minassian, Berge A, Johns, Sophia, Garry, Sarah I, Scheffer, Ingrid E, Gourfinkel-An, Isabelle, Carrilho, Ines, Aylett, Sarah E, Parton, Matthew, Hanna, Michael G, Houlden, Henry, Neville, Brian, Kurian, Manju A, Novy, Jan, Sander, Josemir W, Lambiase, Pier D, Behr, Elijah R, Schyns, Tsveta, Arzimanoglou, Alexis, Cross, J Helen, Kaski, Juan P, Sisodiya, Sanjay M

Volltext

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE von Papadopoulou, Maria T., Muccioli, Lorenzo, Bisulli, Francesca, Klotz, Kerstin Alexandra, Fons, Carmen, Trivisano, Marina, Kabulashvili, Teia, Specchio, Nicola, Lesca, Gaetan, Arzimanoglou, Alexis

Volltext

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment von Fons, Carmen, Rizzu, Patrizia, Garcia-Cazorla, Angels, Martorell, Loreto, Ormazabal, Aida, Artuch, Rafael, Campistol, Jaume, Fernandez-Alvarez, Emilio

Volltext

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet von Ulate-Campos, Adriana, MD, Fons, Carmen, MD, PhD, Artuch, Rafael, MD, PhD, Castejón, Esperanza, MD, Martorell, Loreto, MD, PhD, Ozelius, Laurie, MD, PhD, Pascual, Juan, MD, PhD, Campistol, Jaume, MD, PhD

Volltext

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations von Hortigüela, Montesclaros, Fernández-Marmiesse, Ana, Cantarín, Verónica, Gouveia, Sofía, García-Peñas, Juan J, Fons, Carmen, Armstrong, Judith, Barrios, Desirée, Díaz-Flores, Felícitas, Tirado, Pilar, Couce, María L, Gutiérrez-Solana, Luis G

Volltext

Craniectomy in Herpetic Encephalitis von González Rabelino, Gabriel A., MD, Fons, Carmen, MD, Rey, Andrea, MD, Roussos, Ioannis, MD, Campistol, Jaume, MD, PhD

Volltext

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications von Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Møller, Rikke S, Mantegazza, Massimo, Cestèle, Sandrine

Volltext

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood von Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T, Newcomb, Tara M, Viollet, Louis, Huff, Chad, Jorde, Lynn B, Reyna, Sandra P, Murphy, Kelley J, Shianna, Kevin V, Gumbs, Curtis E, Little, Latasha, Silver, Kenneth, Ptáček, Louis J, Haan, Joost, Ferrari, Michel D, Bye, Ann M, Herkes, Geoffrey K, Whitelaw, Charlotte M, Webb, David, Lynch, Bryan J, Uldall, Peter, King, Mary D, Scheffer, Ingrid E, Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M J M, Sisodiya, Sanjay M, Mikati, Mohamad A, Goldstein, David B

Volltext

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity von Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W., Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A., Bollen, Mathieu, Vermeesch, Joris R., Steet, Richard, Van Esch, Hilde

Volltext

Agenesis of the corpus callosum in a newborn with turner mosaicism von Pereira, Ester, Polo, Monica Rebollo, López, Jordi Muchart, Quijano, Thais Agut, García-Alix, Alfredo, Fons, Carmen

Volltext

Distinct neurological disorders with ATP1A3 mutations von Heinzen, Erin L, Dr, Arzimanoglou, Alexis, MD, Brashear, Allison, Prof, Clapcote, Steven J, PhD, Gurrieri, Fiorella, Prof, Goldstein, David B, Prof, Jóhannesson, Sigurður H, Mikati, Mohamad A, Prof, Neville, Brian, Prof, Nicole, Sophie, PhD, Ozelius, Laurie J, PhD, Poulsen, Hanne, PhD, Schyns, Tsveta, PhD, Sweadner, Kathleen J, PhD, van den Maagdenberg, Arn, Prof, Vilsen, Bente, Prof

Volltext

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease von Patel, Shital H., Panagiotakaki, Eleni, Papadopoulou, Maria T., Fons, Carmen, De Grandis, Elisa, Vezyroglou, Aikaterini, Balestrini, Simona, Hong, Hwanhee, Liu, Beiyu, Prange, Lyndsey, Arzimanoglou, Alexis, Vavassori, Rosaria, Mikati, Mohamad A.

Volltext

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense IKCNQ2/I Gene Variants von Saez-Matia, Alba, Ibarluzea, Markel G, M-Alicante, Sara, Muguruza-Montero, Arantza, Nuñez, Eider, Ramis, Rafael, Ballesteros, Oscar R, Lasa-Goicuria, Diego, Fons, Carmen, Gallego, Mónica, Casis, Oscar, Leonardo, Aritz, Bergara, Aitor, Villarroel, Alvaro

Volltext