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3. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Author

Lenge, Matteo, Balestrini, Simona, Napolitano, Antonio, Mei, Davide, Conti, Valerio, Baldassarri, Giulia, Trivisano, Marina, Pellacani, Simona, Macconi, Letizia, Longo, Daniela, Rossi Espagnet, Maria Camilla, Cappelletti, Simona, D’Incerti, Ludovico, Barba, Carmen, Specchio, Nicola, and Guerrini, Renzo

Published
2024
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4. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Author

Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, and Argilli, Emanuela

Subjects
abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Ion Channels, Brain, Intellectual Disability, Phenotype
Abstract

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes carrying ten distinct heterozygous variants of TMEM63B, encoding for a highly conserved stretch-activated ion channel. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense, including the recurrent p.Val44Met in 7/17 individuals, or in-frame, all affecting conserved residues located in transmembrane regions of the protein. In 12 individuals, hematological abnormalities co-occurred, such as macrocytosis and hemolysis, requiring blood transfusions in some. We modeled six variants (p.Val44Met, p.Arg433His, p.Thr481Asn, p.Gly580Ser, p.Arg660Thr, and p.Phe697Leu), each affecting a distinct transmembrane domain of the channel, in transfected Neuro2a cells and demonstrated inward leak cation currents across the mutated channel even in isotonic conditions, while the response to hypo-osmotic challenge was impaired, as were the Ca2+ transients generated under hypo-osmotic stimulation. Ectopic expression of the p.Val44Met and p.Gly580Cys variants in Drosophila resulted in early death. TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individuals.

Published
2023

7. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Author

Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, and Taylor, Jenny C.

Published
2023
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16. Patterns of oral anticoagulant use and outcomes in Asian patients with atrial fibrillation: a post-hoc analysis from the GLORIA-AF Registry

Author

Abban, Dzifa Wosornu, Abdul, Nasser, Abud, Atilio Marcelo, Adams, Fran, Addala, Srinivas, Adragão, Pedro, Ageno, Walter, Aggarwal, Rajesh, Agosti, Sergio, Agostoni, Piergiuseppe, Aguilar, Francisco, Linares, Julio Aguilar, Aguinaga, Luis, Ahmed, Jameel, Aiello, Allessandro, Ainsworth, Paul, Aiub, Jorge Roberto, Al-Dallow, Raed, Alderson, Lisa, Aldrete Velasco, Jorge Antonio, Alexopoulos, Dimitrios, Manterola, Fernando Alfonso, Aliyar, Pareed, Alonso, David, Alves da Costa, Fernando Augusto, Amado, José, Amara, Walid, Amelot, Mathieu, Amjadi, Nima, Ammirati, Fabrizio, Andrade, Marianna, Andrawis, Nabil, Annoni, Giorgio, Ansalone, Gerardo, Ariani, M.Kevin, Arias, Juan Carlos, Armero, Sébastien, Arora, Chander, Aslam, Muhammad Shakil, Asselman, M., Audouin, Philippe, Augenbraun, Charles, Aydin, S., Ayryanova, Ivaneta, Aziz, Emad, Backes, Luciano Marcelo, Badings, E., Bagni, Ermentina, Baker, Seth H., Bala, Richard, Baldi, Antonio, Bando, Shigenobu, Banerjee, Subhash, Bank, Alan, Esquivias, Gonzalo Barón, Barr, Craig, Bartlett, Maria, Kes, Vanja Basic, Baula, Giovanni, Behrens, Steffen, Bell, Alan, Benedetti, Raffaella, Mazuecos, Juan Benezet, Benhalima, Bouziane, Bergler-Klein, Jutta, Berneau, Jean-Baptiste, Bernstein, Richard A., Berrospi, Percy, Berti, Sergio, Berz, Andrea, Best, Elizabeth, Bettencourt, Paulo, Betzu, Robert, Bhagwat, Ravi, Bhatta, Luna, Biscione, Francesco, Bisignani, Giovanni, Black, Toby, Bloch, Michael J., Bloom, Stephen, Blumberg, Edwin, Bo, Mario, Bøhmer, Ellen, Bollmann, Andreas, Bongiorni, Maria Grazia, Boriani, Giuseppe, Boswijk, D.J., Bott, Jochen, Bottacchi, Edo, Kalan, Marica Bracic, Bradman, Drew, Brautigam, Donald, Breton, Nicolas, Brouwers, P.J.A.M., Browne, Kevin, Cortada, Jordi Bruguera, Bruni, A., Brunschwig, Claude, Buathier, Hervé, Buhl, Aurélie, Bullinga, John, Cabrera, Jose Walter, Caccavo, Alberto, Cai, Shanglang, Caine, Sarah, Calò, Leonardo, Calvi, Valeria, Sánchez, Mauricio Camarillo, Candeias, Rui, Capuano, Vincenzo, Capucci, Alessandro, Caputo, Ronald, Rizo, Tatiana Cárdenas, Cardona, Francisco, Carlos da Costa Darrieux, Francisco, Duarte Vera, Yan Carlos, Carolei, Antonio, Carreño, Susana, Carvalho, Paula, Cary, Susanna, Casu, Gavino, Cavallini, Claudio, Cayla, Guillaume, Celentano, Aldo, Cha, Tae-Joon, Cha, Kwang Soo, Chae, Jei Keon, Chalamidas, Kathrine, Challappa, Krishnan, Chand, Sunil Prakash, Chandrashekar, Harinath, Chartier, Ludovic, Chatterjee, Kausik, Chavez Ayala, Carlos Antero, Cheema, Aamir, Cheema, Amjad, Chen, Lin, Chen, Shih-Ann, Chen, Jyh Hong, Chiang, Fu-Tien, Chiarella, Francesco, Chih-Chan, Lin, Cho, Yong Keun, Choi, Jong-Il, Choi, Dong Ju, Chouinard, Guy, Hoi-Fan Chow, Danny, Chrysos, Dimitrios, Chumakova, Galina, José Roberto, Eduardo Julián, Valenzuela, Chuquiure, Nica, Nicoleta Cindea, Cislowski, David J., Clay, Anthony, Clifford, Piers, Cohen, Andrew, Cohen, Michael, Cohen, Serge, Colivicchi, Furio, Collins, Ronan, Colonna, Paolo, Compton, Steve, Connolly, Derek, Conti, Alberto, Buenostro, Gabriel Contreras, Coodley, Gregg, Cooper, Martin, Coronel, Julian, Corso, Giovanni, Sales, Juan Cosín, Cottin, Yves, Covalesky, John, Cracan, Aurel, Crea, Filippo, Crean, Peter, Crenshaw, James, Cullen, Tina, Darius, Harald, Dary, Patrick, Dascotte, Olivier, Dauber, Ira, Davalos, Vicente, Davies, Ruth, Davis, Gershan, Davy, Jean-Marc, Dayer, Mark, De Biasio, Marzia, De Bonis, Silvana, De Caterina, Raffaele, De Franceschi, Teresiano, de Groot, J.R., De Horta, José, De La Briolle, Axel, Topete, Gilberto de la Pena, Vicenzo de Paola, Angelo Amato, de Souza, Weimar, de Veer, A., De Wolf, Luc, Decoulx, Eric, Deepak, Sasalu, Defaye, Pascal, Del-Carpio Munoz, Freddy, Brkljacic, Diana Delic, Deumite, N. Joseph, Di Legge, Silvia, Diemberger, Igor, Dietz, Denise, Dionísio, Pedro, Dong, Qiang, Rossi dos Santos, Fabio, Dotcheva, Elena, Doukky, Rami, D'Souza, Anthony, Dubrey, Simon, Ducrocq, Xavier, Dupljakov, Dmitry, Duque, Mauricio, Dutta, Dipankar, Duvilla, Nathalie, Duygun, A., Dziewas, Rainer, Eaton, Charles B., Eaves, William, Ebels-Tuinbeek; Clifford Ehrlich, L.A., Eichinger-Hasenauer, Sabine, Eisenberg, Steven J., El Jabali, Adnan, El Shahawy, Mahfouz, Hernandes, Mauro Esteves, Izal, Ana Etxeberria, Evonich, Rudolph, III, Evseeva, Oksana, Ezhov, Andrey, Fahmy, Raed, Fang, Quan, Farsad, Ramin, Fauchier, Laurent, Favale, Stefano, Fayard, Maxime, Fedele, Jose Luis, Fedele, Francesco, Fedorishina, Olga, Fera, Steven R., Gomes Ferreira, Luis Gustavo, Ferreira, Jorge, Ferri, Claudio, Ferrier, Anna, Ferro, Hugo, Finsen, Alexandra, First, Brian, Fischer, Stuart, Fonseca, Catarina, Almeida, Luísa Fonseca, Forman, Steven, Frandsen, Brad, French, William, Friedman, Keith, Friese, Athena, Fruntelata, Ana Gabriela, Fujii, Shigeru, Fumagalli, Stefano, Fundamenski, Marta, Furukawa, Yutaka, Gabelmann, Matthias, Gabra, Nashwa, Gadsbøll, Niels, Galinier, Michel, Gammelgaard, Anders, Ganeshkumar, Priya, Gans, Christopher, Quintana, Antonio Garcia, Gartenlaub, Olivier, Gaspardone, Achille, Genz, Conrad, Georger, Frédéric, Georges, Jean-Louis, Georgeson, Steven, Giedrimas, Evaldas, Gierba, Mariusz, Ortega, Ignacio Gil, Gillespie, Eve, Giniger, Alberto, Giudici, Michael C., Gkotsis, Alexandros, Glotzer, Taya V., Gmehling, Joachim, Gniot, Jacek, Goethals, Peter, Goldbarg, Seth, Goldberg, Ronald, Goldmann, Britta, Golitsyn, Sergey, Gómez, Silvia, Mesa, Juan Gomez, Gonzalez, Vicente Bertomeu, Gonzalez Hermosillo, Jesus Antonio, González López, Víctor Manuel, Gorka, Hervé, Gornick, Charles, Gorog, Diana, Gottipaty, Venkat, Goube, Pascal, Goudevenos, Ioannis, Graham, Brett, Greer, G. Stephen, Gremmler, Uwe, Grena, Paul G., Grond, Martin, Gronda, Edoardo, Grönefeld, Gerian, Gu, Xiang, Torres Torres, Ivett Guadalupe, Guardigli, Gabriele, Guevara, Carolina, Guignier, Alexandre, Gulizia, Michele, Gumbley, Michael, Günther, Albrecht, Ha, Andrew, Hahalis, Georgios, Hakas, Joseph, Hall, Christian, Han, Bing, Han, Seongwook, Hargrove, Joe, Hargroves, David, Harris, Kenneth B., Haruna, Tetsuya, Hayek, Emil, Healey, Jeff, Hearne, Steven, Heffernan, Michael, Heggelund, Geir, Heijmeriks, J.A., Hemels, Maarten, Hendriks, I., Henein, Sam, Her, Sung-Ho, Hermany, Paul, Hernández Del Río, Jorge Eduardo, Higashino, Yorihiko, Hill, Michael, Hisadome, Tetsuo, Hishida, Eiji, Hoffer, Etienne, Hoghton, Matthew, Hong, Kui, Hong, Suk keun, Horbach, Stevie, Horiuchi, Masataka, Hou, Yinglong, Hsing, Jeff, Huang, Chi-Hung, Huckins, David, Hughes, kathy, Huizinga, A., Hulsman, E.L., Hung, Kuo-Chun, Hwang, Gyo-Seung, Ikpoh, Margaret, Imberti, Davide, Ince, Hüseyin, Indolfi, Ciro, Inoue, Shujiro, Irles, Didier, Iseki, Harukazu, Israel, C. Noah, Iteld, Bruce, Iyer, Venkat, Jackson-Voyzey, Ewart, Jaffrani, Naseem, Jäger, Frank, James, Martin, Jang, Sung-Won, Jaramillo, Nicolas, Jarmukli, Nabil, Jeanfreau, Robert J., Jenkins, Ronald D., Sánchez, Carlos Jerjes, Jimenez, Javier, Jobe, Robert, Joen-Jakobsen, Tomas, Jones, Nicholas, Moura Jorge, Jose Carlos, Jouve, Bernard, Jung, Byung Chun, Jung, Kyung Tae, Jung, Werner, Kachkovskiy, Mikhail, Kafkala, Krystallenia, Kalinina, Larisa, Kallmünzer, Bernd, Kamali, Farzan, Kamo, Takehiro, Kampus, Priit, Kashou, Hisham, Kastrup, Andreas, Katsivas, Apostolos, Kaufman, Elizabeth, Kawai, Kazuya, Kawajiri, Kenji, Kazmierski, John F., Keeling, P., Kerr Saraiva, José Francisco, Ketova, Galina, Khaira, Ajit Singh, Khripun, Aleksey, Kim, Doo-Il, Kim, Young Hoon, Kim, Nam Ho, Kim, Dae Kyeong, Kim, Jeong Su, Kim, June Soo, Kim, Ki Seok, Kim, Jin bae, Kinova, Elena, Klein, Alexander, Kmetzo, James J., Kneller, G. Larsen, Knezevic, Aleksandar, Angela Koh, Su Mei, Koide, Shunichi, Kollias, Anastasios, Kooistra, J.A., Koons, Jay, Koschutnik, Martin, Kostis, William J., Kovacic, Dragan, Kowalczyk, Jacek, Koziolova, Natalya, Kraft, Peter, Kragten, Johannes A., Krantz, Mori, Krause, Lars, Krenning, B.J., Krikke, F., Kromhout, Z., Krysiak, Waldemar, Kumar, Priya, Kümler, Thomas, Kuniss, Malte, Kuo, Jen-Yuan, Küppers, Achim, Karla Kurrelmeyer, Kwak, Choong Hwan, Laboulle, Bénédicte, Labovitz, Arthur, Lai, Wen Ter, Lam, Andy, Lam, Yat Yin, Zanetti, Fernando Lanas, Landau, Charles, Landini, Giancarlo, Figueiredo, Estêvão Lanna, Larsen, Torben, Lavandier, Karine, LeBlanc, Jessica, Lee, Moon Hyoung, Lee, Chang-Hoon, Lehman, John, Leitão, Ana, Lellouche, Nicolas, Lelonek, Malgorzata, Lenarczyk, Radoslaw, Lenderink, T., González, Salvador León, Leong-Sit, Peter, Leschke, Matthias, Ley, Nicolas, Li, Zhanquan, Li, Xiaodong, Li, Weihua, Li, Xiaoming, Lichy, Christhoh, Lieber, Ira, Limon Rodriguez, Ramon Horacio, Lin, Hailong, Lip, Gregory Y.H., Liu, Feng, Liu, Hengliang, Esperon, Guillermo Llamas, Navarro, Nassip Llerena, Lo, Eric, Lokshyn, Sergiy, López, Amador, López-Sendón, José Luís, Lorga Filho, Adalberto Menezes, Lorraine, Richard S., Luengas, Carlos Alberto, Luke, Robert, Luo, Ming, Lupovitch, Steven, Lyrer, Philippe, Ma, Changsheng, Ma, Genshan, Madariaga, Irene, Maeno, Koji, Magnin, Dominique, Maid, Gustavo, Mainigi, Sumeet K., Makaritsis, Konstantinos, Malhotra, Rohit, Manning, Rickey, Manolis, Athanasios, Manrique Hurtado, Helard Andres, Mantas, Ioannis, Jattin, Fernando Manzur, Maqueda, Vicky, Marchionni, Niccolo, Ortuno, Francisco Marin, Santana, Antonio Martín, Martinez, Jorge, Maskova, Petra, Hernandez, Norberto Matadamas, Matsuda, Katsuhiro, Maurer, Tillmann, Mauro, Ciro, May, Erik, Mayer, Nolan, McClure, John, McCormack, Terry, McGarity, William, McIntyre, Hugh, McLaurin, Brent, Medina Palomino, Feliz Alvaro, Melandri, Francesco, Meno, Hiroshi, Menzies, Dhananjai, Mercader, Marco, Meyer, Christian, Meyer, Beat J., Miarka, Jacek, Mibach, Frank, Michalski, Dominik, Michel, Patrik, Chreih, Rami Mihail, Mikdadi, Ghiath, Mikus, Milan, Milicic, Davor, Militaru, Constantin, Minaie, Sedi, Minescu, Bogdan, Mintale, Iveta, Mirault, Tristan, Mirro, Michael J., Mistry, Dinesh, Miu, Nicoleta Violeta, Miyamoto, Naomasa, Moccetti, Tiziano, Mohammed, Akber, Nor, Azlisham Mohd, Mollerus, Michael, Molon, Giulio, Mondillo, Sergio, Moniz, Patrícia, Mont, Lluis, Montagud, Vicente, Montaña, Oscar, Monti, Cristina, Moretti, Luciano, Mori, Kiyoo, Moriarty, Andrew, Morka, Jacek, Moschini, Luigi, Moschos, Nikitas, Mügge, Andreas, Mulhearn, Thomas J., Muresan, Carmen, Muriago, Michela, Musial, Wlodzimierz, Musser, Carl W., Musumeci, Francesco, Nageh, Thuraia, Nakagawa, Hidemitsu, Nakamura, Yuichiro, Nakayama, Toru, Nam, Gi-Byoung, Nanna, Michele, Natarajan, Indira, Nayak, Hemal M., Naydenov, Stefan, Nazlić, Jurica, Cristian Nechita, Alexandru, Nechvatal, Libor, Negron, Sandra Adela, Neiman, James, Neuenschwander, Fernando Carvalho, Neves, David, Neykova, Anna, Miguel, Ricardo Nicolás, Nijmeh, George, Nizov, Alexey, Campos, Rodrigo Noronha, Nossan, Janko, Novikova, Tatiana, Nowalany-Kozielska, Ewa, Nsah, Emmanuel, Nunez Fragoso, Juan Carlos, Nurgalieva, Svetlana, Nuyens, Dieter, Nyvad, Ole, Odin de Los Rios Ibarra, Manuel, O'Donnell, Philip, O'Donnell, Martin, Oh, Seil, Oh, Yong Seog, Oh, Dongjin, O'Hara, Gilles, Oikonomou, Kostas, Olivares, Claudia, Oliver, Richard, Ruiz, Rafael Olvera, Olympios, Christoforos, omaszuk-Kazberuk, Anna, Asensi, Joaquín Osca, Jose, eena Padayattil, Padilla Padilla, Francisco Gerardo, Rios, Victoria Padilla, Pajes, Giuseppe, Pandey, Shekhar, Paparella, Gaetano, Paris, F., Park, Hyung Wook, Park, Jong Sung, Parthenakis, Fragkiskos, Passamonti, Enrico, Patel, Rajesh J., Patel, Jaydutt, Patel, Mehool, Patrick, Janice, Jimenez, Ricardo Pavón, Paz, Analía, Pengo, Vittorio, Pentz, William, Pérez, Beatriz, Pérez Ríos, Alma Minerva, Pérez-Cabezas, Alejandro, Perlman, Richard, Persic, Viktor, Perticone, Francesco, Peters, Terri K., Petkar, Sanjiv, Pezo, Luis Felipe, Pflücke, Christian, Pham, David N., Phillips, Roland T., Phlaum, Stephen, Pieters, Denis, Pineau, Julien, Pinter, Arnold, Pinto, Fausto, Pisters, R., Pivac, Nediljko, Pocanic, Darko, Podoleanu, Cristian, Politano, Alessandro, Poljakovic, Zdravka, Pollock, Stewart, Garcéa, Jose Polo, Poppert, Holger, Porcu, Maurizio, Reino, Antonio Pose, Prasad, Neeraj, Précoma, Dalton Bertolim, Prelle, Alessandro, Prodafikas, John, Protasov, Konstantin, Pye, Maurice, Qiu, Zhaohui, Quedillac, Jean-Michel, Raev, Dimitar, Raffo Grado, Carlos Antonio, Rahimi, Sidiqullah, Raisaro, Arturo, Rama, Bhola, Ramos, Ricardo, Ranieri, Maria, Raposo, Nuno, Rashba, Eric, Rauch-Kroehnert, Ursula, Reddy, Ramakota, Renda, Giulia, Reza, Shabbir, Ria, Luigi, Richter, Dimitrios, Rickli, Hans, Rieker, Werner, Vera, Tomas Ripolil, Ritt, Luiz Eduardo, Roberts, Douglas, Briones, Ignacio Rodriguez, Rodriguez Escudero, Aldo Edwin, Pascual, Carlos Rodríguez, Roman, Mark, Romeo, Francesco, Ronner, E., Roux, Jean-Francois, Rozkova, Nadezda, Rubacek, Miroslav, Rubalcava, Frank, Russo, Andrea M., Rutgers, Matthieu Pierre, Rybak, Karin, Said, Samir, Sakamoto, Tamotsu, Salacata, Abraham, Salem, Adrien, Bodes, Rafael Salguero, Saltzman, Marco A., Salvioni, Alessandro, Vallejo, Gregorio Sanchez, Fernández, Marcelo Sanmartín, Saporito, Wladmir Faustino, Sarikonda, Kesari, Sasaoka, Taishi, Sati, Hamdi, Savelieva, Irina, Scala, Pierre-Jean, Schellinger, Peter, Scherr, Carlos, Schmitz, Lisa, Schmitz, Karl-Heinz, Schmitz, Bettina, Schnabel, Teresa, Schnupp, Steffen, Schoeniger, Peter, Schön, Norbert, Schwimmbeck, Peter, Seamark, Clare, Searles, Greg, Seidl, Karl-Heinz, Seidman, Barry, Sek, Jaroslaw, Sekaran, Lakshmanan, Serrati, Carlo, Shah, Neerav, Shah, Vinay, Shah, Anil, Shah, Shujahat, Sharma, Vijay Kumar, Shaw, Louise, Sheikh, Khalid H., Shimizu, Naruhito, Shimomura, Hideki, Shin, Dong-Gu, Shin, Eun-Seok, Shite, Junya, Sibilio, Gerolamo, Silver, Frank, Sime, Iveta, Simmers, Tim A., Singh, Narendra, Siostrzonek, Peter, Smadja, Didier, Smith, David W., Snitman, Marcelo, Filho, Dario Sobral, Soda, Hassan, Sofley, Carl, Sokal, Adam, Oi Yan, Yannie Soo, Sotolongo, Rodolfo, Ferreira de Souza, Olga, Sparby, Jon Arne, Spinar, Jindrich, Sprigings, David, Spyropoulos, Alex C., Stakos, Dimitrios, Steinwender, Clemens, Stergiou, Georgios, Stiell, Ian, Stoddard, Marcus, Stoikov, Anastas, Streb, Witold, Styliadis, Ioannis, Su, Guohai, Su, Xi, Sudnik, Wanda, Sukles, Kai, Sun, Xiaofei, Swart, H., Szavits-Nossan, Janko, Taggeselle, Jens, Takagi, Yuichiro, Singh Takhar, Amrit Pal, Tamm, Angelika, Tanaka, Katsumi, Tanawuttiwat, Tanyanan, Tang, Sherman, Tang, Aylmer, Tarsi, Giovanni, Tassinari, Tiziana, Tayal, Ashis, Tayebjee, Muzahir, Berg, J.M. ten, Tesloianu, Dan, The, Salem H.K., Thomas, Dierk, Timsit, Serge, Tobaru, Tetsuya, Tomasik, Andrzej R., Torosoff, Mikhail, Touze, Emmanuel, Trendafilova, Elina, Tsai, W. Kevin, Tse, Hung Fat, Tsutsui, Hiroshi, Tu, Tian Ming, Tuininga, Ype, Turakhia, Minang, Turk, Samir, Turner, Wayne, Tveit, Arnljot, Tytus, Richard, Valadão, C., van Bergen, P.F.M.M., van de Borne, Philippe, van den Berg, B.J., van der Zwaan, C., Van Eck, M., Vanacker, Peter, Vasilev, Dimo, Vasilikos, Vasileios, Vasilyev, Maxim, Veerareddy, Srikar, Miño; Asok Venkataraman, Mario Vega, Verdecchia, Paolo, Versaci, Francesco, Vester, Ernst Günter, Vial, Hubert, Victory, Jason, Villamil, Alejandro, Vincent, Marc, Vlastaris, Anthony, Dahl, Jürgen vom, Vora, Kishor, Vranian, Robert B., Wakefield, Paul, Wang, Ningfu, Wang, Mingsheng, Wang, Xinhua, Wang, Feng, Wang, Tian, Warner, Alberta L., Watanabe, Kouki, Wei, Jeanne, Weimar, Christian, Weiner, Stanislav, Weinrich, Renate, Wen, Ming-Shien, Wiemer, Marcus, Wiggers, Preben, Wilke, Andreas, Williams, David, Williams, Marcus L., Witzenbichler, Bernhard, Wong, Brian, Lawrence Wong, Ka Sing, Wozakowska-Kaplon, Beata, Wu, Shulin, Wu, Richard C., Wunderlich, Silke, Wyatt, Nell, Wylie, John (Jack), Xu, Yong, Xu, Xiangdong, Yamanoue, Hiroki, Yamashita, Takeshi, Bryan Yan, Ping Yen, Yang, Tianlun, Yao, Jing, Yeh, Kuo-Ho, Yin, Wei Hsian, Yotov, Yoto, Zahn, Ralf, Zarich, Stuart, Zenin, Sergei, Zeuthen, Elisabeth Louise, Zhang, Huanyi, Zhang, Donghui, Zhang, Xingwei, Zhang, Ping, Zhang, Jun, Zhao, Shui Ping, Zhao, Yujie, Zhao, Zhichen, Zheng, Yang, Zhou, Jing, Zimmermann, Sergio, Zini, Andrea, Zizzo, Steven, Zong, Wenxia, Zukerman, L. Steven, Romiti, Giulio Francesco, Corica, Bernadette, Proietti, Marco, Mei, Davide Antonio, Frydenlund, Juliane, Bisson, Arnaud, Olshansky, Brian, Chan, Yi-Hsin, Huisman, Menno V., and Chao, Tze-Fan

Published
2023
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17. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, and Franco, Brunella

Published
2023
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18. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo

Published
2023
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19. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Author

Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, and Lupski, James R.

Published
2023
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22. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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25. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

Author

Pelorosso, Cristiana, Watrin, Françoise, Conti, Valerio, Buhler, Emmanuelle, Gelot, Antoinette, Yang, Xiaoxu, Mei, Davide, McEvoy-Venneri, Jennifer, Manent, Jean-Bernard, Cetica, Valentina, Ball, Laurel L, Buccoliero, Anna Maria, Vinck, Antonin, Barba, Carmen, Gleeson, Joseph G, Guerrini, Renzo, and Represa, Alfonso

Subjects
Rare Diseases, Neurosciences, Epilepsy, Genetics, Neurodegenerative, Tuberous Sclerosis, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Child, Drug Resistant Epilepsy, Female, Hemimegalencephaly, Humans, Malformations of Cortical Development, Malformations of Cortical Development, Group I, Mice, Mosaicism, Mutation, Neurons, Ribosomal Protein S6, TOR Serine-Threonine Kinases, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Single germline or somatic activating mutations of mammalian target of rapamycin (mTOR) pathway genes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit mechanism, based on a primary germline mutation in one allele and a secondary somatic hit affecting the other allele of the same gene in a small number of cells, has been documented in some patients with TSC or FCD. In a patient with HME, severe intellectual disability, intractable seizures and hypochromic skin patches, we identified the ribosomal protein S6 (RPS6) p.R232H variant, present as somatic mosaicism at ~15.1% in dysplastic brain tissue and ~11% in blood, and the MTOR p.S2215F variant, detected as ~8.8% mosaicism in brain tissue, but not in blood. Overexpressing the two variants independently in animal models, we demonstrated that MTOR p.S2215F caused neuronal migration delay and cytomegaly, while RPS6 p.R232H prompted increased cell proliferation. Double mutants exhibited a more severe phenotype, with increased proliferation and migration defects at embryonic stage and, at postnatal stage, cytomegalic cells exhibiting eccentric nuclei and binucleation, which are typical features of balloon cells. These findings suggest a synergistic effect of the two variants. This study indicates that, in addition to single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutations affecting different genes in this pathway. RPS6 is a potential novel disease-related gene.

Published
2019

26. Clinical spectrum of STX1B-related epileptic disorders.

Author

Cilio, Maria, Van Paesschen, Wim, Svendsen, Lene, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair, Vavoulis, Dimitris, Knight, Samantha, Taylor, Jenny, Canevini, Maria, Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric, Kluger, Gerhard, Lowenstein, Daniel, Weckhuysen, Sarah, Pal, Deb, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys, Rees, Mark, Lesca, Gaetan, Sisodiya, Sanjay, Weber, Yvonne, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian, Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke, Balestrini, Simona, Helbig, Katherine, Altuzarra, Cecilia, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce, and Numis, Adam

Subjects
Adolescent, Anticonvulsants, Child, Child, Preschool, Developmental Disabilities, Drug Resistant Epilepsy, Electroencephalography, Epilepsies, Partial, Epileptic Syndromes, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Learning Disabilities, Loss of Function Mutation, Male, Mutation, Missense, Phenotype, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Young Adult
Abstract

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

Published
2019

32. Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

Author

Battaglia, Domenica, Chieffo, Daniela, Lucibello, Simona, Marini, Carla, Sibilia, Valentina, Mei, Davide, Darra, Francesca, Offredi, Francesca, Fontana, Elena, Specchio, Nicola, Cappelletti, Simona, Granata, Tiziana, Ragona, Francesca, Patrini, Mara, Baglietto, Maria G., Prato, Giulia, Ferrari, Annarita, Vigevano, Federico, Mercuri, Eugenio, Bernardina, Bernardo Dalla, Guerrini, Renzo, Dravet, Charlotte, and Guzzetta, Francesco

Published
2021
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33. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

Author

Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F, Scheffer, Ingrid E, Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H, Allen, Andrew S, Heinzen, Erin L, and Goldstein, David B

Subjects
Biological Sciences, Genetics, Neurodegenerative, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, DNA Mutational Analysis, Epilepsy, Female, Genes, Dominant, Genome-Wide Association Study, Humans, Male, Munc18 Proteins, Mutation, NAV1.2 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, Potassium Channels, Potassium Channels, Sodium-Activated, Exome Sequencing, Developmental Biology
Abstract

Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes causing dominant forms of EE originally implicated by DNM analysis. We performed a genome-wide search for an enrichment of "qualifying variants" in protein-coding genes in 488 unrelated cases compared to 12,151 unrelated controls. These "qualifying variants" were selected to be extremely rare variants predicted to functionally impact the protein to enrich for likely pathogenic variants. Despite modest sample size, three known EE genes (KCNT1, SCN2A, and STXBP1) achieved genome-wide significance (p

Published
2017

34. Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies

Author

Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health, Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas, Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health, Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, and Brunklaus, Andreas

Published
2024

35. Clinical and molecular characterization of patients with YWHAG-related epilepsy

Author

Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette S., Marjanovic, Dragan, Rougeot-Jung, Christelle, Jung, Julien, Lesieur-Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, Guerrini, Renzo, Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette S., Marjanovic, Dragan, Rougeot-Jung, Christelle, Jung, Julien, Lesieur-Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, and Guerrini, Renzo

Abstract

Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. Results: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype–phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p <.001). Significance: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype–phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.

Published
2024

36. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

37. Systematic review and meta-analysis on the impact on outcomes of device algorithms for minimizing right ventricular pacing.

Author

Mei, Davide Antonio, Imberti, Jacopo Francesco, Vitolo, Marco, Bonini, Niccolò, Serafini, Kevin, Mantovani, Marta, Tartaglia, Enrico, Birtolo, Chiara, Zuin, Marco, Bertini, Matteo, and Boriani, Giuseppe

Abstract

Aims Physiological activation of the heart using algorithms to minimize right ventricular pacing (RVPm) may be an effective strategy to reduce adverse events in patients requiring anti-bradycardia therapies. This systematic review and meta-analysis aimed to evaluate current evidence on clinical outcomes for patients treated with RVPm algorithms compared to dual-chamber pacing (DDD). Methods and results We conducted a systematic search of the PubMed database. The predefined endpoints were the occurrence of persistent/permanent atrial fibrillation (PerAF), cardiovascular (CV) hospitalization, all-cause death, and adverse symptoms. We also aimed to explore the differential effects of algorithms in studies enrolling a high percentage of atrioventricular block (AVB) patients. Eight studies (7229 patients) were included in the analysis. Compared to DDD pacing, patients using RVPm algorithms showed a lower risk of PerAF [odds ratio (OR) 0.74, 95% confidence interval (CI) 0.57–0.97] and CV hospitalization (OR 0.77, 95% CI 0.61–0.97). No significant difference was found for all-cause death (OR 1.01, 95% CI 0.78–1.30) or adverse symptoms (OR 1.03, 95% CI 0.81–1.29). No significant interaction was found between the use of the RVPm strategy and studies enrolling a high percentage of AVB patients. The pooled mean RVP percentage for RVPm algorithms was 7.96% (95% CI 3.13–20.25), as compared with 45.11% (95% CI 26.64–76.38) of DDD pacing. Conclusion Algorithms for RVPm may be effective in reducing the risk of PerAF and CV hospitalization in patients requiring anti-bradycardia therapies, without an increased risk of adverse symptoms. These results are also consistent for studies enrolling a high percentage of AVB patients. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

Author

Gallagher, Declan, primary, Pérez‐Palma, Eduardo, additional, Bruenger, Tobias, additional, Ghanty, Ismael, additional, Brilstra, Eva, additional, Ceulemans, Berten, additional, Chemaly, Nicole, additional, de Lange, Iris, additional, Depienne, Christel, additional, Guerrini, Renzo, additional, Mei, Davide, additional, Møller, Rikke S., additional, Nabbout, Rima, additional, Regan, Brigid M., additional, Schneider, Amy L., additional, Scheffer, Ingrid E., additional, Schoonjans, An‐Sofie, additional, Symonds, Joseph D., additional, Weckhuysen, Sarah, additional, Zuberi, Sameer M., additional, Lal, Dennis, additional, and Brunklaus, Andreas, additional

Published
2024
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41. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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42. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

Author

Kyrousi, Christina, O’Neill, Adam C., Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D’ Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y., Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, Frances, Guerrini, Renzo, Baffet, Alexandre D., Sieber, Stephan A., Treutlein, Barbara, Robertson, Stephen P., and Cappello, Silvia

Published
2021
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45. Educational status affects prognosis of patients with heart failure with reduced ejection fraction: A post‐hoc analysis from the WARCEF trial.

Author

Corica, Bernadette, Romiti, Giulio Francesco, Simoni, Amalie Helme, Mei, Davide Antonio, Bucci, Tommaso, Thompson, John L. P., Qian, Min, Homma, Shunichi, Proietti, Marco, and Lip, Gregory Y. H.

Subjects
HEART failure, EDUCATIONAL attainment, HEART failure patients, VENTRICULAR ejection fraction, EDUCATIONAL outcomes, CEREBRAL hemorrhage, CLINICAL trial registries
Abstract

Aims: The influence of social determinants of health (SDOH) on the prognosis of Heart Failure and reduced Ejection Fraction (HFrEF) is increasingly reported. We aim to evaluate the contribution of educational status on outcomes in patients with HFrEF. Methods: We used data from the WARCEF trial, which randomized HFrEF patients with sinus rhythm to receive Warfarin or Aspirin; educational status of patients enrolled was collected at baseline. We defined three levels of education: low, medium and high level, according to the highest qualification achieved or highest school grade attended. We analysed the impact of the educational status on the risk of the primary composite outcome of all‐cause death, ischemic stroke (IS) and intracerebral haemorrhage (ICH); components of the primary outcome were also analysed as secondary outcomes. Results: 2295 patients were included in this analysis; of these, 992 (43.2%) had a low educational level, 947 (41.3%) had a medium education level and the remaining 356 (15.5%) showed a high educational level. Compared to patients with high educational level, those with low educational status showed a high risk of the primary composite outcome (adjusted hazard ratio [aHR]: 1.31, 95% confidence intervals [CI] 1.02–1.69); a non‐statistically significant association was observed in those with medium educational level (aHR: 1.20, 95%CI:.93–1.55). Similar results were observed for all‐cause death, while no statistically significant differences were observed for IS or ICH. Conclusion: Compared to patients with high educational levels, those with low educational status had worse prognosis. SDOH should be considered in patients with HFrEF. Clinical Trial Registration: NCT00041938. [ABSTRACT FROM AUTHOR]

Published
2024
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46. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Author

Guerrini, Renzo, primary, Lenge, Matteo, additional, Balestrini, Simona, additional, Napolitano, Antonio, additional, Mei, Davide, additional, Conti, Valerio, additional, Baldassarri, Giulia, additional, Trivisano, Marina, additional, Pellacani, Simona, additional, Macconi, Letizia, additional, Longo, Daniela, additional, Espagnet, Maria Camilla Rossi, additional, Cappelletti, Simona, additional, d'Incerti, Ludovico, additional, Barba, Carmen, additional, and Specchio, Nicola, additional

Published
2023
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50. Quantification of Myocardial Contraction Fraction with Three-Dimensional Automated, Machine-Learning-Based Left-Heart-Chamber Metrics: Diagnostic Utility in Hypertrophic Phenotypes and Normal Ejection Fraction

Author

Barbieri, Andrea, primary, Imberti, Jacopo F., additional, Bartolomei, Mario, additional, Bonini, Niccolò, additional, Laus, Vera, additional, Torlai Triglia, Laura, additional, Chiusolo, Simona, additional, Stuani, Marco, additional, Mari, Chiara, additional, Muto, Federico, additional, Righelli, Ilaria, additional, Gerra, Luigi, additional, Malaguti, Mattia, additional, Mei, Davide A., additional, Vitolo, Marco, additional, and Boriani, Giuseppe, additional

Published
2023
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