Not logged in Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotovic, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barisic, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadza, Danijela Petkovic; Baric, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Riviere, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja Share Save
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication Matricardi, Sara; Cestele, Sandrine; Trivisano, Marina; Kassabian, Benedetta; Leroudier, Nathalie; Vittorini, Roberta; Nosadini, Margherita; Cesaroni, Elisabetta; Siliquini, Sabrina; Marinaccio, Cristina; Longaretti, Francesca; Podesta, Barbara; Operto, Francesca Felicia; Luisi, Concetta; Sartori, Stefano; Boniver, Clementina; Specchio, Nicola; Vigevano, Federico; Marini, Carla; Mantegazza, Massimo Share Save
Epilepsy in a cohort of children with Noonan syndrome and related disorders Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability Menduti, Giovanna; Biamino, Elisa; Vittorini, Roberta; Vesco, Serena; Puccinelli, Maria Paola; Porta, Francesco; Capo, Concetta; Leo, Sara; Ciminelli, Bianca Maria; Iacovelli, Federico; Spada, Marco; Falconi, Mattia; Malaspina, Patrizia; Rossi, Luisa Share Save
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Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia Suppiej, Agnese; Cappellari, Ambra; Talenti, Giacomo; Cainelli, Elisa; Di Capua, Matteo; Janes, Augusta; Longo, Daniela; Mardari, Rodica; Marinaccio, Cristina; Pro, Stefano; Sciortino, Paola; Trevisanuto, Daniele; Vittorini, Roberta; Manara, Renzo Share Save
Neuroimaging Changes in Menkes Disease, Part 2 Manara, R.; Rocco, M. C.; D'agata, L.; Cusmai, R.; Freri, E.; Giordano, L.; Darra, F.; Procopio, E.; Toldo, I.; Peruzzi, C.; Vittorini, R.; Spalice, A.; Fusco, C.; Nosadini, M.; Longo, D.; Sartori, S. Share Save
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