Simultaneous EEG-fMRI in Patients with Unverricht-Lundborg Disease: Event-Related Desynchronization/Synchronization and Hemodynamic Response Analysis

by Elisa Visani, Ludovico Minati, Laura Canafoglia, Isabella Gilioli, Lucia Salvatoni, Giulia Varotto, Patrik Fazio, Domenico Aquino, Maria Grazia Bruzzone, Silvana Franceschetti, Ferruccio Panzica
Published 2010-01-01

Treatment with metformin in twelve patients with Lafora disease

by Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper
Published 2019-06-01

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

by Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka, Emil Kakkis, Cynthia Tifft, Camilo Toro, Simona Allievi, Cinzia Gellera, Laura Canafoglia, Gepke Visser, Ida Annunziata, Alessandra d’Azzo
Published 2020-03-01

Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy

by Francesco Di Matteo, Fabrizia Pipicelli, Christina Kyrousi, Isabella Tovecci, Eduardo Penna, Marianna Crispino, Angela Chambery, Rosita Russo, Ane Cristina Ayo‐Martin, Martina Giordano, Anke Hoffmann, Emilio Ciusani, Laura Canafoglia, Magdalena Götz, Rossella Di Giaimo, Silvia Cappello
Published 2020-06-01

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

by Mattia Bonzanni, Jacopo C. DiFrancesco, Raffaella Milanesi, Giulia Campostrini, Barbara Castellotti, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Ilaria Rivolta, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Published 2018-10-01

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

by Giulia Campostrini, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Published 2018-08-01

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

by Tobias Baumgartner, Mar Carreño, Rodrigo Rocamora, Francesca Bisulli, Antonella Boni, Milan Brázdil, Ondrej Horak, Dana Craiu, Cristina Pereira, Renzo Guerrini, Victoria San Antonio‐Arce, Andreas Schulze‐Bonhage, Sameer M. Zuberi, Tove Hallböök, Reetta Kalviainen, Lieven Lagae, Sylvie Nguyen, Sofia Quintas, Ana Franco, J. Helen Cross, Matthew Walker, Alexis Arzimanoglou, Sylvain Rheims, Tiziana Granata, Laura Canafoglia, Cecilie Johannessen Landmark, Arjune Sen, Rohini Rattihalli, Rima Nabbout, Elena Tartara, Manuela Santos, Rui Rangel, Pavel Krsek, Petr Marusic, Nicola Specchio, Kees P. J. Braun, Patricia Smeyers, Vicente Villanueva, Katarzyna Kotulska, Rainer Surges
Published 2021-03-01

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Published 2019-10-01