DNM1 encephalopathy: A new disease of vesicle fission von von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D.J, Sisodiya, Sanjay M, Helbig, Ingo

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Copy number variation plays an important role in clinical epilepsy von Olson, Heather, Shen, Yiping, Avallone, Jennifer, Sheidley, Beth R., Pinsky, Rebecca, Bergin, Ann M., Berry, Gerard T., Duffy, Frank H., Eksioglu, Yaman, Harris, David J., Hisama, Fuki M., Ho, Eugenia, Irons, Mira, Jacobsen, Christina M., James, Philip, Kothare, Sanjeev, Khwaja, Omar, Lipton, Jonathan, Loddenkemper, Tobias, Markowitz, Jennifer, Maski, Kiran, Megerian, J. Thomas, Neilan, Edward, Raffalli, Peter C., Robbins, Michael, Roberts, Amy, Roe, Eugene, Rollins, Caitlin, Sahin, Mustafa, Sarco, Dean, Schonwald, Alison, Smith, Sharon E., Soul, Janet, Stoler, Joan M., Takeoka, Masanori, Tan, Wen-Han, Torres, Alcy R., Tsai, Peter, Urion, David K., Weissman, Laura, Wolff, Robert, Wu, Bai-Lin, Miller, David T., Poduri, Annapurna

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Analysis of EEG patterns and genotypes in patients with Angelman syndrome von Vendrame, Martina, Loddenkemper, Tobias, Zarowski, Marcin, Gregas, Matt, Shuhaiber, Hans, Sarco, Dean P, Morales, Augusto, Nespeca, Mark, Sharpe, Cia, Haas, Kevin, Barnes, Gregory, Glaze, Daniel, Kothare, Sanjeev V

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Benign rolandic epileptiform discharges are associated with mood and behavior problems von Sarco, Dean P, Boyer, Katrina, Lundy-Krigbaum, Shannon M, Takeoka, Masanori, Jensen, Frances, Gregas, Matt, Waber, Deborah P

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Angelman syndrome: Mutations influence features in early childhood von Tan, Wen-Hann, Bacino, Carlos A., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Kothare, Sanjeev V., Lee, Hye-Seung, Nespeca, Mark P., Peters, Sarika U., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Bird, Lynne M.

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations von Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.

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Oxcarbazepine in Children With Nocturnal Frontal-Lobe Epilepsy von Raju, G. Praveen, MD, PhD, Sarco, Dean P., MD, Poduri, Annapurna, MD, Riviello, James J., MD, Bergin, Ann Marie R., MD, Takeoka, Masanori, MD

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The neuroprotective effect of deferoxamine in the hypoxic-ischemic immature mouse brain von Sarco, Dean P, Becker, Joseph, Palmer, Charles, Sheldon, R.Ann, Ferriero, Donna M

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The safety and tolerability of newer antiepileptic drugs in children and adolescents von Sarco, Dean P., Bourgeois, Blaise F. D.

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Septo‐Optic Dysplasia Complicated by Infantile Spasms and Bilateral Choroidal Fissure Arachnoid Cysts von Tas, Emir, Tracy, Molly, Sarco, Dean P., Eksioglu, Yaman Z., Prabhu, Sanjay P., Loddenkemper, Tobias

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Electroencephalography in epilepsy surgery planning von Sarco, Dean P, Burke, John F, Madsen, Joseph R

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Clinical genetic testing for patients with autism spectrum disorders von Shen, Yiping, Dies, Kira A, Holm, Ingrid A, Bridgemohan, Carolyn, Sobeih, Magdi M, Caronna, Elizabeth B, Miller, Karen J, Frazier, Jean A, Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A, Peters, Heather K, Brewster, Stephanie J, Kowalczyk, Sara J, Rosen-Sheidley, Beth, McGowan, Caroline, Duda, 3rd, Andrew W, Lincoln, Sharyn A, Lowe, Kathryn R, Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K, Milunsky, Jeff M, Rappaport, Leonard, Gusella, James F, Walsh, Christopher A, Wu, Bai-Lin, Miller, David T

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Yield of Lumbar Puncture Among Children Who Present With Their First Complex Febrile Seizure von KIMIA, Amir, BEN-JOSEPH, Elana Pearl, RUDLOE, Tiffany, CAPRARO, Andrew, SARCO, Dean, HUMMEL, David, JOHNSTON, Patrick, HARPER, Marvin B

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eP167 - Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O’Grady, Lauren, Sweetser, David, Gold, Nina, Vergano, Samantha, Hoffman, Trevor, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy, Sacharow, Stephanie, Immken, LaDonna, Holder, Susan, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, Sarco, Dean

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O’Grady, Lauren, Sweetser, David, Gold, Nina, Vergano, Samantha, Hoffman, Trevor, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy, Sacharow, Stephanie, Immken, LaDonna, Holder, Susan, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, Sarco, Dean

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders von Ching, Michael S.L., Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S., Morrow, Eric M., Chen, Xiaoli, Mukaddes, Nahit M., Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E., Berry, Gerard T., Driscoll, Katherine, Engle, Elizabeth C., Friedman, Sandra, Gusella, James F., Hisama, Fuki M., Irons, Mira B., Lafiosca, Tina, LeClair, Elaine, Miller, David T., Neessen, Michael, Picker, Jonathan D., Rappaport, Leonard, Rooney, Cynthia M., Sarco, Dean P., Stoler, Joan M., Walsh, Christopher A., Wolff, Robert R., Zhang, Ting, Nasir, Ramzi H., Wu, Bai-Lin

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

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Yield of Emergent Neuroimaging Among Children Presenting With a First Complex Febrile Seizure von Kimia, Amir A, Ben-Joseph, Elana, Prabhu, Sanjay, Rudloe, Tiffany, Capraro, Andrew, Sarco, Dean, Hummel, David, Harper, Marvin

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders von Valente, Enza Maria, Brancati, Francesco, Silhavy, Jennifer L., Castori, Marco, Marsh, Sarah E., Barrano, Giuseppe, Bertini, Enrico, Boltshauser, Eugen, Zaki, Maha S., Abdel-Aleem, Alice, Abdel-Salam, Ghada M. H., Bellacchio, Emanuele, Battini, Roberta, Cruse, Robert P., Dobyns, William B., Krishnamoorthy, Kalpathy S., Lagier-Tourenne, Clotilde, Magee, Alex, Pascual-Castroviejo, Ignacio, Salpietro, Carmelo D., Sarco, Dean, Dallapiccola, Bruno, Gleeson, Joseph G.

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A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome von Bird, Lynne M., Tan, Wen-Hann, Bacino, Carlos A., Peters, Sarika U., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Mohan, K. Naga, Nespeca, Mark P., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Beaudet, Arthur L.

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