The role of sodium channels in sudden unexpected death in pediatrics von Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.

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BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures von Scheffer, Ingrid E, Boysen, Katja E, Schneider, Amy L, Myers, Candace T, Mehaffey, Michele G, Rochtus, Anne M, Yuen, Yuet‐Ping, Ronen, Gabriel M, Chak, Wai Km, Gill, Deepak, Poduri, Annapurna, Mefford, Heather C

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Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression von Rochtus, Anne M, Trowbridge, Sara, Goldstein, Richard D, Sheidley, Beth Rosen, Prabhu, Sanjay P, Haynes, Robin, Kinney, Hannah C, Poduri, Annapurna H

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BRAT 1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures von Scheffer, Ingrid E, Boysen, Katja E, Schneider, Amy L, Myers, Candace T, Mehaffey, Michele G, Rochtus, Anne M, Yuen, Yuet‐Ping, Ronen, Gabriel M, Chak, Wai Km, Gill, Deepak, Poduri, Annapurna, Mefford, Heather C

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BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures von Scheffer, Ingrid E, Boysen, Katja E, Schneider, Amy L, Myers, Candace T, Mehaffey, Michele G, Rochtus, Anne M, Yuen, Yuet-Ping, Ronen, Gabriel, Chak, Wai Km, Gill, Deepak, Poduri, Annapurna, Mefford, Heather C

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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures von Burgess, Rosemary, Wang, Shuyu, McTague, Amy, Boysen, Katja E., Yang, Xiaoling, Zeng, Qi, Myers, Kenneth A., Rochtus, Anne, Trivisano, Marina, Gill, Deepak, Sadleir, Lynette G., Specchio, Nicola, Guerrini, Renzo, Marini, Carla, Zhang, Yue‐Hua, Mefford, Heather C., Kurian, Manju A., Poduri, Annapurna H., Scheffer, Ingrid E.

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Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load von Perucca, Piero, Anderson, Alison, Jazayeri, Dana, Hitchcock, Alison, Graham, Janet, Todaro, Marian, Tomson, Torbjörn, Battino, Dina, Perucca, Emilio, Ferri, Meritxell Martinez, Rochtus, Anne, Lagae, Lieven, Canevini, Maria Paola, Zambrelli, Elena, Campbell, Ellen, Koeleman, Bobby P. C., Scheffer, Ingrid E., Berkovic, Samuel F., Kwan, Patrick, Sisodiya, Sanjay M., Goldstein, David B., Petrovski, Slavé, Craig, John, Vajda, Frank J. E., O'Brien, Terence J.

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Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives von van der Kaay, Danielle Christine Maria, Rochtus, Anne, Binder, Gerhard, Kurth, Ingo, Prawitt, Dirk, Netchine, Irène, Johannsson, Gudmundur, Hokken-Koelega, Anita C S, Elbracht, Miriam, Eggermann, Thomas

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Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome von Bhalla, Kritika, Rosier, Karen, Monnens, Yenthe, Meulemans, Sandra, Vervoort, Ellen, Thorrez, Lieven, Agostinis, Patrizia, Meier, Daniel T., Rochtus, Anne, Resnick, James L., Creemers, John W.M.

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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region von Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.

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Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome von Hannes, Laurens, Atzori, Marta, Goldenberg, Alice, Argente, Jesús, Attie-Bitach, Tania, Amiel, Jeanne, Attanasio, Catia, Braslavsky, Débora G., Bruel, Ange-Line, Castanet, Mireille, Dubourg, Christèle, Jacobs, An, Lyonnet, Stanislas, Martinez-Mayer, Julian, Pérez Millán, María Inés, Pezzella, Nunziana, Pelgrims, Elise, Aerden, Mio, Bauters, Marijke, Rochtus, Anne, Scaglia, Paula, Swillen, Ann, Sifrim, Alejandro, Tammaro, Roberta, Mau-Them, Frederic Tran, Odent, Sylvie, Thauvin-Robinet, Christel, Franco, Brunella, Breckpot, Jeroen

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Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions von Monnens, Yenthe, Theodoropoulou, Anastasia, Rosier, Karen, Bhalla, Kritika, Mahy, Alexia, Vanhoutte, Roeland, Meulemans, Sandra, Cavani, Edoardo, Antanasijevic, Aleksandar, Lemmens, Irma, Lee, Jennifer A, Spellicy, Catherine J, Schroer, Richard J, Maselli, Ricardo A, Laverty, Chamindra G, Agostinis, Patrizia, Pagliarini, David J, Verhelst, Steven, Marcaida, Maria J, Rochtus, Anne, Dal Peraro, Matteo, Creemers, John Wm

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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region von Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason

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