Search Results - "Ananth, Amitha L"

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder by Ananth, Amitha L., MD, Robichaux-Viehoever, Amy, MD, PhD, Kim, Young-Min, ​MD, Hanson-Kahn, Andrea, MS, CGC, Cox, Rachel, MS, CGC, Enns, Gregory M., MB, ChB, Strober, Jonathan, MD, Willing, Marcia, MD, Schlaggar, Bradley L., MD, PhD, Wu, Yvonne W., MD, MPH, Bernstein, Jonathan A., MD, PhD

“…Abstract Objectives Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four…”
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A Review of Neurogenetics in Fetal and Neonatal Clinical Medicine by Ananth, Amitha, Lopez, Michael A.

“…This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics,…”
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An Unusual Cause of Peroneal Neuropathy by Ananth, Amitha L., MD, Yang, Yaping, PhD, Lalani, Seema R., MD, PhD, Lotze, Timothy B., MD

“…We discuss the case of a teenage girl who presented with neurologic symptoms suggestive of a peripheral neuropathy, before the development of a central…”
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice by McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Berg, Anne T, Borlot, Felippe, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, 2nd, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Kellogg, Marissa A, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Ostrander, Betsy, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika

“…It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes…”
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Developmental epileptic encephalopathy in DLG4‐related synaptopathy by 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, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido

“…Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants…”
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