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Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
Journal Article
by Salpietro, V and Dixon, CL and Guo, H and Bello, OD and Vandrovcova, J and Efthymiou, S and Maroofian, R and Heimer, G and Burglen, L and Valence, S and Torti, E and Hacke, M and Rankin, J and Tariq, H and Colin, E and Procaccio, V and Striano, P and Mankad, K and Lieb, A and Chen, S and Pisani, L and Bettencourt, C and Mannikko, R and Manole, A and Brusco, A and Grosso, E and Ferrero, GB and Armstrong-Moron, J and Gueden, S and Bar-Yosef, O and Tzadok, M and Monaghan, KG and Santiago-Sim, T and Person, RE and Cho, MT and Willaert, R and Yoo, Y and Chae, JH and Quan, YT and Wu, HD and Wang, TY and Bernier, RA and Xia, K and Blesson, A and Jain, M and Motazacker, MM and Jaeger, B and Schneider, AL and Boysen, K and Muir, AM and Myers, CT and Gavrilova, RH and Gunderson, L and Schultz-Rogers, L and Klee, EW and Dyment, D and Osmond, M and Parellada, M and Llorente, C and Gonzalez-Penas, J and Carracedo, A and Van Haeringen, A and Ruivenkamp, C and Nava, C and Heron, D and Nardello, R and Iacomino, M and Minetti, C and Skabar, A and Fabretto, A and Chez, M and Tsai, A and Fassi, E and Shinawi, M and Constantino, JN and De Zorzi, R and Fortuna, S and Kok, F and Keren, B and Bonneau, D and Choi, M and Benzeev, B and Zara, F and Mefford, HC and Scheffer, IE and Clayton-Smith, J and Macaya, A and Rothman, JE and Eichler, EE and Kullmann, DM and Houlden, H and Raspall-Chaure, M and Hanna, MG and Bugiardini, E and Hostettler, I and O'Callaghan, B and Khan, A and Cortese, A and O'Connor, E and Yau, WY and ... and SYNAPS Study Grp and SYNAPS Study Group
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 07/2019, Volume 130, Issue 7, pp. e26 - e27
Mutations on SYNGAP1, which encodes a main protein in the postsynaptic regulating NMDA cascade responsible of the formation and maturation of dendritic spines,... 
Autism | Encephalopathy | Epilepsy | Electroencephalography | Seizures (Medicine) | Pediatric neurology | Neurophysiology
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 01/2018, Volume 22, Issue 1, pp. 56 - 63
Characterize the real-world management of and outcomes for children with epilepsy receiving rescue medication for prolonged acute convulsive seizures (PACS) in... 
Rescue medication | Midazolam | Prolonged acute convulsive seizure | Epilepsy | Diazepam | ACUTE REPETITIVE SEIZURES | RECTAL DIAZEPAM GEL | STATUS EPILEPTICUS | PEDIATRICS | CLINICAL NEUROLOGY | Index Medicus
Journal Article
by Salpietro, Vincenzo and Malintan, Nancy T and Malintan, Nancy and Llano-Rivas, Isabel and Spaeth, Christine G and Efthymiou, Stephanie and Striano, Pasquale and Vandrovcova, Jana and Cutrupi, Maria Concetta and Cutrupi, Maria C and Chimenz, Roberto and David, Emanuele and Di Rosa, Gabriella and Marce-Grau, Anna and Raspall-Chaure, Miquel and Martin-Hernandez, Elena and Zara, Federico and Minetti, Carlo and Kriouile, Yamna and El Khorassani, Mohamed and Aguennouz, Mhammed and Karashova, Blagovesta and Avdjieva, Daniela and Kathom, Hadil and Tincheva, Radka and Van Maldergem, Lionel and Nachbauer, Wolfgang and Boesch, Sylvia and Arning, Larissa and Timmann, Dagmar and Cormand, Bru and Pérez-Dueñas, Belen and Pironti, Erica and Goraya, Jatinder S and Sultan, Tipu and Kirmani, Salman and Ibrahim, Shahnaz and Jan, Farida and Mine, Jun and Banu, Selina and Veggiotti, Pierangelo and Ferrari, Michel D and Verrotti, Alberto and Marseglia, Gian Luigi and Savasta, Salvatore and Garavaglia, Barbara and Scuderi, Carmela and Borgione, Eugenia and Dipasquale, Valeria and Portaro, Simona and Sanchez, Benigno Monteagudo and Pineda-Marfa’, Mercedes and Munell, Francina and Macaya, Alfons and Boles, Richard and Heimer, Gali and Papacostas, Savvas and Manole, Andreea and Zanetti, Maria Natalia and Hanna, Michael G and Rothman, James E and Kullmann, Dimitri M and Houlden, Henry and Bello, Oscar D and De Zorzi, Rita and Fortuna, Sara and Dauber, Andrew and Alkhawaja, Mariam and Mankad, Kshitij and Vitobello, Antonio and Thomas, Quentin and Mau-Them, Frederic Tran and Faivre, Laurence and Martinez-Azorin, Francisco and Prada, Carlos E and Krishnakumar, Shyam S and SYNAPS Study Grp and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and SYNAPS Study Group
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 721 - 730
Journal Article
Journal Article