Retrospective study on neonatal seizures in a tertiary center of northern Italy after ILAE classification: Incidence, seizure type, EEG and etiology

Authors: Dilena, Robertino, Molisso, Maria T., De Carli, Agnese, Mauri, Eleonora, Circiello, Alberta, Di Benedetto, Alessia, Pisoni, Silvia, Bassi, Laura, Bana, Cristina, Cappellari, Alberto M., Consonni, Dario, Mastrangelo, Massimo, Granata, Tiziana, La Briola, Francesca, Peruzzi, Cinzia, Raviglione, Federico, Striano, Pasquale, Barbieri, Sergio, Mosca, Fabio, Fumagalli, Monica

Source: In Epilepsy & Behavior October 2024 159

GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

Authors: Novelli, Maria, Galosi, Serena, Zorzi, Giovanna, Martinelli, Simone, Capuano, Alessandro, Nardecchia, Francesca, Granata, Tiziana, Pollini, Luca, Di Rocco, Martina, Marras, Carlo Efisio, Nardocci, Nardo, Leuzzi, Vincenzo

Source: In Parkinsonism and Related Disorders June 2023 111

Fenfluramine treatment for Dravet syndrome: Long term real‐world analysis demonstrates safety and reduced health care burden.

Authors: Boncristiano, Alessandra, Balestrini, Simona, Doccini, Viola, Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina, Darra, Francesca, Cossu, Alberto, Battaglia, Domenica, Quintiliani, Michela, Gambardella, M. Luigia, Parente, Eliana, Monni, Rita, Matricardi, Sara, Marini, Carla, Ragona, Francesca, Granata, Tiziana, Striano, Pasquale, Riva, Antonella, Guerrini, Renzo

Source: Epilepsia (Series 4); Apr2025, Vol. 66 Issue 4, p1110-1118, 9p

Subject Terms: FENFLURAMINE, MEDICAL care use, PATIENT care, SAFETY, EPILEPSY, SEIZURES (Medicine), ADVERSE health care events, BODY mass index

Inflammation in pediatric epilepsies: Update on clinical features and treatment options

Authors: Granata, Tiziana, Fusco, Lucia, Matricardi, Sara, Tozzo, Alessandra, Janigro, Damir, Nabbout, Rima

Source: In Epilepsy & Behavior June 2022 131 Part B

Different circuitry dysfunction in drug-naive patients with juvenile myoclonic epilepsy and juvenile absence epilepsy

Authors: Canafoglia, Laura, Viganò, Ilaria, Ferlazzo, Edoardo, Visani, Elisa, Granata, Tiziana, Vignoli, Aglaia, Ragona, Francesca, Gasparini, Sara, Aguglia, Umberto, Canevini, Maria Paola, Varotto, Giulia, Panzica, Ferruccio, Franceschetti, Silvana

Source: In Epilepsy & Behavior December 2021 125

Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?

Authors: Porro, Alessandro, Abbandonato, Gerardo, Veronesi, Valentina, Russo, Alberto, Binda, Anna, Antolini, Laura, Granata, Tiziana, Castellotti, Barbara, Marini, Carla, Moroni, Anna, DiFrancesco, Jacopo C., Rivolta, Ilaria

Source: In Progress in Biophysics and Molecular Biology November 2021 166:147-155

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Authors: Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther M C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, vanBaalen, Andreas, vonSpiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Pickrell, William O, Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R, Auce, Pauls, Sills, Graeme J, Baum, Larry W, Sham, Pak C, Cherny, Stacey S, Lui, Colin H T, Barišić, Nina, Delanty, Norman, Doherty, Colin P, Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G, King, Chontelle, Mountier, Emily, Caglayan, Hande S, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R, Shain, Catherine, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R, Lo, Warren, Privitera, Michael, French, Jacqueline A, Schachter, Steven, Kuzniecky, Ruben I, Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L, Ellis, Colin A, Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T, Pato, Carlos N, Bromet, Evelyn J, Carvalho, Celia Barreto, Achtyes, Eric D, Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Medeiros, Helena, Morley, Christopher P, Perkins, Diana O, Sobell, Janet L, Buckley, Peter F, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, McCarroll, Steven A, Gupta, Namrata, Gabriel, Stacey B, Daly, Mark J, Lander, Eric S, Lowenstein, Daniel H, Goldstein, David B, Lerche, Holger, Berkovic, Samuel F, Neale, Benjamin M, Koko, Mahmoud, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael

Source: In eBioMedicine October 2021 72

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Authors: Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, YeşÇiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Goldstein, David B.

Source: In The American Journal of Human Genetics 3 June 2021 108(6):965-982

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Authors: Raviglione, Federico, Douzgou, Sofia, Scala, Marcello, Mingarelli, Alessia, D'Arrigo, Stefano, Freri, Elena, Darra, Francesca, Giglio, Sabrina, Bonaglia, Maria C, Pantaleoni, Chiara, Mastrangelo, Massimo, Epifanio, Roberta, Elia, Maurizio, Saletti, Veronica, Morlino, Silvia, Vari, Maria Stella, De Liso, Paola, Pavaine, Julija, Spaccini, Luigina, Cattaneo, Elisa, Gardella, Elena, Møller, Rikke S, Marchese, Francesca, Colonna, Clara, Gandioli, Claudia, Gobbi, Giuseppe, Ram, Dipak, Palumbo, Orazio, Carella, Massimo, Germano, Michele, Tonduti, Davide, De Angelis, Diego, Caputo, Davide, Bergonzini, Patrizia, Novara, Francesca, Zuffardi, Orsetta, Verrotti, Alberto, Orsini, Alessandro, Bonuccelli, Alice, De Muto, Maria Carmela, Trivisano, Marina, Vigevano, Federico, Granata, Tiziana, Bernardina, Bernardo Dalla, Tranchina, Antonia, Striano, Pasquale

Source: In Seizure: European Journal of Epilepsy May 2021 88:60-72

Psychiatric autoimmune conditions in children and adolescents: Is catatonia a severity marker?

Authors: Ferrafiat, Vladimir ^{a, b, ⁎}, Riquin, Elise ^c, Freri, Elena ^d, Granata, Tiziana ^d, Nardocci, Nardo ^d, Medjkane, François ^e, Corfiotti, Claire ^e, Tozzo, Alessandra ^d, Pellerin, Huges ^a, Benarous, Xavier ^a, Haroche, Julien ^f, Amoura, Zahir ^f, Duverger, Philippe ^c, Jardri, Renaud ^e, Gerardin, Priscille ^b, Cohen, David ^{a, g}, Consoli, Angèle ^{a, h}, Raffin, Marie ^{a, h}

Source: In Progress in Neuropsychopharmacology & Biological Psychiatry 10 January 2021 104

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes.

Authors: Filareto, Ilaria, Mosca, Ilaria, Freri, Elena, Ragona, Francesca, Canafoglia, Laura, Solazzi, Roberta, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, Soldovieri, Maria Virginia, Ambrosino, Paolo, Taglialatela, Maurizio, DiFrancesco, Jacopo C., Granata, Tiziana

Source: Frontiers in Cellular Neuroscience; 2025, p1-12, 12p

Subject Terms: MISSENSE mutation, MOLECULAR diagnosis, GENETIC variation, POTASSIUM channels, GABAPENTIN, EPILEPSY

CLN6‐related continuum phenotype caused by aberrant splicing.

Authors: Invernizzi, Federica, Castellotti, Barbara, Reale, Chiara, Panteghini, Celeste, Colangelo, Isabel, Solazzi, Roberta, Ragona, Francesca, Giordano, Lucio, Galli, Jessica, Rossi Sebastiano, Davide, Marucci, Gianluca, Cuccarini, Valeria, Didato, Giuseppe, Gellera, Cinzia, Garavaglia, Barbara, Granata, Tiziana, Canafoglia, Laura

Source: Epilepsia Open; Feb2025, Vol. 10 Issue 1, p348-354, 7p

Subject Terms: DISABILITIES, NEURONAL ceroid-lipofuscinosis, GENE expression, CEREBRAL atrophy, MISSENSE mutation

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy

Authors: Soldovieri, Maria Virginia, Freri, Elena, Ambrosino, Paolo, Rivolta, Ilaria, Mosca, Ilaria, Binda, Anna, Murano, Carmen, Ragona, Francesca, Canafoglia, Laura, Vannicola, Chiara, Solazzi, Roberta, Granata, Tiziana, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, Labalme, Audrey, Lesca, Gaetan, DiFrancesco, Jacopo C. ^*, Taglialatela, Maurizio ^**

Source: In Pharmacological Research October 2020 160

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Authors: Vetri, Luigi, Calì, Francesco, Vinci, Mirella, Amato, Carmelo, Roccella, Michele, Granata, Tiziana, Freri, Elena, Solazzi, Roberta, Romano, Valentino, Elia, Maurizio

Source: In European Journal of Medical Genetics April 2020 63(4)

Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study

Authors: Di Marco, Roberto, Hallemans, Ann, Bellon, Giulia, Ragona, Francesca, Piazza, Elena, Granata, Tiziana, Ceulemans, Berten, Schoonjans, An-Sofie, Van de Walle, Patricia, Darra, Francesca, Dalla Bernardina, Bernardo, Vecchi, Marilena, Sawacha, Zimi, Scarpa, Bruno, Masiero, Stefano, Benedetti, Maria Grazia, Del Felice, Alessandra

Source: In European Journal of Paediatric Neurology November 2019 23(6):808-818

Early clinical and EEG findings associated with the outcome in childhood absence epilepsy

Authors: Canafoglia, Laura, Dettori, Maria Sabina, Duran, Dunja, Ragona, Francesca, Freri, Elena, Casellato, Susanna, Granata, Tiziana, Franceschetti, Silvana, Panzica, Ferruccio

Source: In Epilepsy & Behavior September 2019 98 Part A:273-278

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Authors: Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M.C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., Neale, Benjamin M.

Source: In The American Journal of Human Genetics 1 August 2019 105(2):267-282

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

Authors: DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D’Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, Gellera, Cinzia

Source: In Epilepsy Research July 2019 153:49-58

Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Authors: Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Messina, Giuliana, Magri, Stefania, Previtali, Roberto, Solazzi, Roberta, Franceschetti, Silvana, Taroni, Franco, Canafoglia, Laura, Gellera, Cinzia, Granata, Tiziana, DiFrancesco, Jacopo C.

Source: Epilepsia Open; Oct2024, Vol. 9 Issue 5, p1922-1930, 9p

Subject Terms: PARTIAL epilepsy, PEOPLE with epilepsy, GENETIC testing, THERAPEUTICS, INDIVIDUALIZED medicine

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

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

Source: In Neurobiology of Disease October 2018 118:55-63