Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases by Davide Caputo, Silvana Franceschetti, Barbara Castellotti, Elena Freri, G. Zorzi, Veronica Saletti, Laura Canafoglia, Tiziana Granata

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GRN−/− iPSC-derived cortical neurons recapitulate the pathological findings of both frontotemporal lobar degeneration and neuronal ceroidolipofuscinosis by Patrizia Bossolasco, Sara Cimini, Emanuela Maderna, Donatella Bardelli, Laura Canafoglia, Tiziana Cavallaro, Martina Ricci, Vincenzo Silani, Gianluca Marucci, Giacomina Rossi

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Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration a... by Sara Cimini, Sonia Bellini, Claudia Saraceno, Luisa Benussi, Roberta Ghidoni, Silvia Clara Giliani, Gianfranco Puoti, Laura Canafoglia, Giorgio Giaccone, Giacomina Rossi

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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

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Plasma Small Extracellular Vesicle Cathepsin D Dysregulation in <i>GRN/C9orf72</i> and Sporadic Frontotemporal Lobar Degeneration by Sonia Bellini, Claudia Saraceno, Luisa Benussi, Andrea Geviti, Antonio Longobardi, Roland Nicsanu, Sara Cimini, Martina Ricci, Laura Canafoglia, Cinzia Coppola, Gianfranco Puoti, Giuliano Binetti, Giacomina Rossi, Roberta Ghidoni

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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes by Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci

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Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy by Ilaria Mosca, Elena Freri, Paolo Ambrosino, Giorgio Belperio, Tiziana Granata, Laura Canafoglia, Francesca Ragona, Roberta Solazzi, Ilaria Filareto, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela

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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

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Plasma Small Extracellular Vesicles with Complement Alterations in <i>GRN</i>/<i>C9orf72</i> and Sporadic Frontotemporal Lobar Degeneration by Sonia Bellini, Claudia Saraceno, Luisa Benussi, Rosanna Squitti, Sara Cimini, Martina Ricci, Laura Canafoglia, Cinzia Coppola, Gianfranco Puoti, Clarissa Ferrari, Antonio Longobardi, Roland Nicsanu, Marta Lombardi, Giulia D’Arrigo, Claudia Verderio, Giuliano Binetti, Giacomina Rossi, Roberta Ghidoni

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Myoclonus: Differential diagnosis and current management by Antonella Riva, Gianluca D'Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro

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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

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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

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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

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