المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia. 64(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0q22f2xm

المؤلفون: Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, Freeze, Hudson H

المصدر: Human Mutation. 40(7)

مصطلحات موضوعية: Clinical Research, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Animals, Biopsy, CHO Cells, Cells, Cultured, Congenital Disorders of Glycosylation, Cricetulus, Female, Humans, Male, Monosaccharide Transport Proteins, Mutation, Uridine Diphosphate Galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/48w6q46x

المؤلفون: Singhal, Nilika Shah, Sullivan, Joseph E

المصدر: ISRN neurology. 2014

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6n942995

المؤلفون: Singhal, Nilika Shah, Hills, Nancy K, Sidney, Stephen, Fullerton, Heather J

المصدر: Neurology. 81(6)

مصطلحات موضوعية: Physical Injury - Accidents and Adverse Effects, Neurosciences, Brain Disorders, Stroke, Pediatric, Prevention, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Good Health and Well Being, Adolescent, Case-Control Studies, Child, Child, Preschool, Cohort Studies, Craniocerebral Trauma, Female, Humans, Infant, Infections, Intracranial Hemorrhages, Male, Vascular Malformations, Young Adult, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/46s2m6mj

المؤلفون: Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G.

المصدر: Epilepsia (Series 4); Feb2023, Vol. 64 Issue 2, p443-455, 13p

مصطلحات موضوعية: PEOPLE with epilepsy, ION channels, SEIZURES (Medicine), EPILEPSY, NEUROLOGICAL disorders, NEURAL development

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المؤلفون: Singhal, Nilika Shah, Harini, Chellamani, Sullivan, Joseph

المصدر: In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:e1283-e1301

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المؤلفون: Aaen, Gregory S., Abend, Nicholas Scott, Abou-Hamden, Amal, Allen, Jeffrey C., Amato, Anthony A., Amlie-Lefond, Catherine, Ashwal, Stephen, Bailey, Russell C., Bale, James F., Jr., Banwell, Brenda, Barañano, Kristin W., Barkovich, A. James, Barohn, Richard J., Bartels, Ute K., Bartnik-Olson, Brenda, Barzilai, Ori, Bassuk, Alexander, Bearden, David R., Ben-Sira, Liat, Bernard, Timothy J., Berry-Kravis, Elizabeth, Beslow, Lauren A., Biegel, Jaclyn A., Billinghurst, Lori, Birnbaum, Angela K., Blackburn, Joanna S., Bobowski, Nuala, Boire, Adrienne, Bönnemann, Carsten G., Bonifacio, Sonia L., Bonthius, Daniel J., Borcherding, Breck, Branchford, Brian R., Brandsema, John, Brennan, Kathryn M., Brenton, J. Nicholas, Brooks-Kayal, Amy R., Brown, Lawrence W., Buchalter, Jeffrey, Camfield, Carol S., Camfield, Peter R., Campoy, Cristina, Carpenter, Jessica L., Chang, Taeun, Chau, Vann, Chi, Susan N., Chiriboga, Claudia A., Cho, Yoon-Jae, Christian, Cindy W., Chrestian, Nicholas, Cilio, Maria Roberta, Clark, Robin D., Cohen, Bruce H., Cohn, Ronald D., Connolly, Anne M., Constable, Todd, Constantini, Shlomi, Conway, Jeannine M., Coulter, David L., Cowan, Tina M., Dale, Russell C., Darbro, Benjamin, Darras, Basil T., Dastgir, Jahannaz, De Meirleir, Linda, De Vivo, Darryl C., de Vries, Linda S., Deisch, Jeremy K., Deltenre, Paul, Desai, Jay, Descartes, Maria, deVeber, Gabrielle, Dhamne, Sameer C., Diaz, Jullianne, DiMauro, Salvatore, Dobyns, William B., Doherty, Dan, Donner, Elizabeth J., Dosenbach, Nico U.F., Dowling, James J., Drake, James M., Ejerskov, Cecile, Engel, Andrew G., Enns, Gregory M., Escolano-Margarit, María Victoria, Etzion, Iris, Fatemi, S. Ali, Fehlings, Darcy L., Feinberg, Michelle Lauren, Ferriero, Donna M., Filipek, Pauline A., Finkel, Richard S., Fisher, Paul G., Flanigan, Kevin, Foreman, Nicholas K., Franco, Israel, Frank, Yitzchak, Fredrick, Douglas R., Freeze, Hudson H., Fuente-Mora, Cristina, Furman, Joseph M., Gallagher, Renata C., Garel, Catherine, Gertsch, Emily, Gilbert, Donald L., Gilles, Elizabeth E., Giza, Christopher C., Glaser, Carol A., Glass, Hannah C., Glauser, Tracy, Glykys, Joseph, Goldstein, Amy, Gonorazky, Hernan Dario, Gonzalez, Rodolfo, Goodkin, Howard P., Graham, John M., Jr., Greninger, Alexander L., Gronseth, Gary, Gropman, Andrea L., Grundy, Richard, Guerrini, Renzo, Gupta, Nalin, Hahn, Jin S., Hamblin, Milton H., Hani, Abeer J., Hanmantgad, Sharyu, Harbert, Mary J., Harini, Chellamani, Harriott, Andrea M., Heatwole, Chad, Hershey, Andrew D., Hirtz, Deborah G., Holmes, Gregory L., Holshouser, Barbara A., Hurwitz, Kathleen A., Hwang, Eugene, Ichord, Rebecca N., Jafar-Nejad, Paymaan, Jain, Sejal V., Jordan, Lori, Kabbouche, Marielle A., Kacperski, Joanne, Kang, Peter B., Kariannis, Matthias A., Kaufmann, Horacio, Kaye, Harper L., Keating, Robert, Kennedy, Colin R., Khakoo, Yasmin, Kirton, Adam, Kissel, John T., Knupp, Kelly G., Korf, Bruce R., Kossoff, Eric H., Kothare, Sanjeev V., Kupfer, Oren, LaFrance, W. Curt, Jr., Latal, Beatrice, Leber, Steven M., Lee, Jean-Pyo, Leppik, Ilo E., Lerman-Sagie, Tally, Lerner, Jason T., Leventer, Richard J., Licht, Daniel J., Lichter-Konecki, Uta, Lidar, Zvi, Liem, Djin Gie, Loddenkemper, Tobias, Long, Roger K., Luc, Quyen N., Mackay, Mark, Majnemer, Annette, Makhani, Naila, Malinger, Gustavo, Mandelbaum, David E., Maricich, Stephen M., Maski, Kiran P., Mathur, Mudit, Matthews, Dennis J., McMahon, Kelly, DeMara-Hoth, Megan B., Mendelsohn, Bryce, Mennella, Julie A., Ment, Laura R., Mercuri, Eugenio, Michelson, David J., Mikati, Mohamad A., Mikhail, Fady M., Miller, Steven Paul, Milunsky, Jeff M., Mink, Jonathan W., Mirzaa, Ghayda M., Mitchell, Wendy G., Mohan, Michael A., Mohassel, Payam, Moharir, Mahendranath, Monani, Umrao R., Monje Deisseroth, Michelle, Moodley, Manikum, Mower, Andrew, Moxley, Richard T., III, Mueller, Sabine, Muotri, Alysson R., Nagamani, Sandesh C.S., Narayanan, Mohan J., Narayanan, Vinodh, Nass, Ruth D., Neul, Jeffrey L., Nevo, Yoram, Ng, Bobby G., Nickels, Katherine C., Nimmo, Graeme A.M., Noetzel, Michael J., Norcliffe-Kaufmann, Lucy, Nordli, Douglas R., Jr., Nowak-Göttl, Ulrike, O'Brien, Hope L., Oleszek, Joyce, Oskoui, Maryam, Paciorkowski, Alex R., Packer, Roger J., Packman, Seymour, Palma, Jose-Alberto, Pardo, Andrea C., Parsons, Julie A., Partridge, John Colin, Pastores, Gregory M., Patterson, Marc C., Pearce, William J., Pearl, Phillip L., Penner, Melanie, Percival, Leila, Pereira, Marcia, Pfister, Stefan M., Phillips, John, Plecko, Barbara, Plioplys, Sigita, Poduri, Annapurna, Poisson, Sharon, Pomeroy, Scott L., Poretti, Andrea, Powers, Scott W., Pranzatelli, Michael R., Przekop, Allison, Rabie, Malcolm, Rangasamy, Sampathkumar, Raymond, Gerald V., Reddy, Alyssa T., Rendleman, Rebecca L., Rho, Jong M., Rodan, Lance H., Roddy, Sarah M., Rogers, Elizabeth E., Rosenthal, Stephen M., Rosman, N. Paul, Ross, M. Elizabeth, Rotenberg, Alexander, Rust, Robert S., Sanchez, Cheryl P., Sanchez, Pedro, Sánchez Fernández, Iván, Sands, Tristan T., Sanger, Terence D., Sannagowdara, Kumar, Scheinost, Dustin, Scher, Mark S., Schor, Nina F., Schrauwen, Isabelle, Segal, Michael M., Seinfeld, Syndi, Selcen, Duygu, Seltzer, Laurie E., Semrud-Clikeman, Margaret, Shaw, Dennis W., Shaywitz, Bennett A., Shaywitz, Sally E., Shellhaas, Renée A., Sherr, Elliott H., Sheth, Rita D., Shevell, Michael I., Shinnar, Shlomo, Shofty, Ben, Shu, Stanford K., Shy, Michael E., Silveira Moriyama, Laura, Silvestri, Nicholas J., Sims, Katherine B., Singer, Harvey S., Singhal, Nilika Shah, Smith, Craig M., Smith, Edward, Smith, Stephen A., Snyder, Evan Y., Soul, Janet, Spalink, Christy L., Spencer, Karen A., Stafstrom, Carl E., Steinfeld, Robert, Strober, Jonathan B., Sullivan, Joseph, Swaiman, Kenneth F., Swoboda, Kathryn J., Tate, Elizabeth D., Tatum, William O., IV, Tein, Ingrid, Tekulve, Kristyn, Tenney, Jeffrey R., Thiele, Elizabeth A., Thompson-Stone, Robert, Tochen, Laura, Tormoehlen, Laura M., Tran, Lily, Trauner, Doris A., Turnacioglu, Sinan O., Ullrich, Nicole J., Urion, David K., Van Camp, Guy, Van Hirtum-Das, Michèle, van Karnebeek, Clara D.M., Van Maldergem, Lionel, Vanderver, Adeline, Vitanza, Nicholas A., von Rhein, Michael, von Scheven, Emily, Wagner, Ann, Wainwright, Mark S., Walker, Melissa A., Walkup, John T., Walsh, Laurence, Walters-Sen, Lauren C., Wang, Raymond Y., Warner, Thomas T., Whelan, Harry T., Weinberg, Geoffrey A., Wells, Elizabeth M., Wheless, James W., Wirrell, Elaine C., Wisoff, Jeffrey H., Wolf, Nicole I., Wolfe, Gil I., Wright, F. Virginia, Wycliffe, Nathaniel D., Yang, Michele L., Yuskaitis, Christopher J., Zoghbi, Huda Y., Zupanc, Mary L.

المصدر: In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:xiv-xxvi

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