SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy von Vlaskamp, Danique R.M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M.S, van de Laar, Ingrid M.B.H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M.A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E

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Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy von Berecki, Geza, Helbig, Katherine L., Ware, Tyson L., Grinton, Bronwyn, Skraban, Cara M., Marsh, Eric D., Berkovic, Samuel F., Petrou, Steven

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Pyridoxine responsiveness in novel mutations of the PNPO gene von Ware, Tyson L, Pitt, James, Freeman, Jeremy

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Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons von Chear, Sueanne, Perry, Sharn, Wilson, Richard, Bindoff, Aidan, Talbot, Jana, Ware, Tyson L, Grubman, Alexandra, Vickers, James C, Pébay, Alice, Ruddle, Jonathan B, King, Anna E, Hewitt, Alex W, Cook, Anthony L

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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants von Berecki, Géza, Howell, Katherine B., Heighway, Jacqueline, Olivier, Nelson, Rodda, Jill, Overmars, Isabella, Vlaskamp, Danique R. M., Ware, Tyson L., Ardern-Holmes, Simone, Lesca, Gaetan, Alber, Michael, Veggiotti, Pierangelo, Scheffer, Ingrid E., Berkovic, Samuel F., Wolff, Markus, Petrou, Steven

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Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment von Ware, Tyson L, Earl, John, Salomons, Gajja S, Struys, Eduard A, Peters, Heidi L, Howell, Katherine B, Pitt, James J, Freeman, Jeremy L

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Autoimmune myasthenia gravis, immunotherapy and thymectomy in children von Ware, Tyson L, Ryan, Monique M, Kornberg, Andrew J

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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations von Kooshavar, Daniz, Amor, David J, Boggs, Kirsten, Baker, Naomi, Barnett, Christopher, de Silva, Michelle G, Edwards, Samantha, Fahey, Michael C, Marum, Justine E, Snell, Penny, Bozaoglu, Kiymet, Pope, Kate, Mohammad, Shekeeb S, Riney, Kate, Sachdev, Rani, Scheffer, Ingrid E, Schenscher, Sarah, Silberstein, John, Smith, Nicholas, Tom, Melanie, Ware, Tyson L, Lockhart, Paul J, Leventer, Richard J

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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania von Ware, Tyson L., Huskins, Shannon R., Grinton, Bronwyn E., Liu, Yu‐Chi, Bennett, Mark F., Harvey, Michael, McMahon, Jacinta, Andreopoulos‐Malikotsinas, Danae, Bahlo, Melanie, Howell, Katherine B., Hildebrand, Michael S., Damiano, John A., Rosenfeld, Alexander, Mackay, Mark T., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Freeman, Jeremy L., Scheffer, Ingrid E., Jones, Dean L., Berkovic, Samuel F.

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Childhood Chronic Inflammatory Demyelinating Polyneuropathy: An Overview of 10 Cases in the Modern Era von Ware, Tyson L., Kornberg, Andrew J., Rodriguez-Casero, M. Victoria, Ryan, Monique M.

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Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease von Menezes, Manoj P, Rahman, Shamima, Bhattacharya, Kaustuv, Clark, Damian, Christodoulou, John, Ellaway, Carolyn, Farrar, Michelle, Pitt, Matthew, Sampaio, Hugo, Ware, Tyson L, Wedatilake, Yehani, Thorburn, David R, Ryan, Monique M, Ouvrier, Robert

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Epileptic spasms: Experience with a high-dose oral corticosteroid protocol von Ware, Tyson L, Mackay, Mark T, Harvey, A Simon, Freeman, Jeremy L

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VENLAFAXINE INGESTION IN A 4-YEAR-OLD GIRL von Ware, Tyson L, McCloskey, Kate, Ryan, Monique M, Cranswick, Noel

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Juvenile Parkinsonism von Ware, Tyson L, Srinivasan, Jayasri, Gonzalez, Linda, Hardikar, Winita, Scheinberg, Adam M, Baker, Louise, Prakash, Chidambaram, Ryan, Monique M

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High resolution chromosomal microarray in undiagnosed neurological disorders von Howell, Katherine B, Kornberg, Andrew J, Harvey, A Simon, Ryan, Monique M, Mackay, Mark T, Freeman, Jeremy L, Rodriguez Casero, M Victoria, Collins, Kevin J, Hayman, Michael, Mohamed, Ahmad, Ware, Tyson L, Clark, Damian, Bruno, Damien L, Burgess, Trent, Slater, Howard, McGillivray, George, Leventer, Richard J

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies von Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke von Medley, Tanya L, Miteff, Christina, Andrews, Ian, Ware, Tyson, Cheung, Michael, Monagle, Paul, Mandelstam, Simone, Wray, Alison, Pridmore, Clair, Troedson, Christopher, Dale, Russell C, Fahey, Michael, Sinclair, Adriane, Walsh, Peter, Stojanovski, Belinda, Mackay, Mark T

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Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice von Scheffer, Ingrid E., Bennett, Caitlin A., Gill, Deepak, Silva, Michelle G., Boggs, Kirsten, Marum, Justine, Baker, Naomi, Palmer, Elizabeth E., Howell, Katherine B., Andrews, Ian, Antony, Jayne, Ardern‐Holmes, Simone, Bye, Ann M, Cardamone, Michael, Chelakkadan, Shabeed, Clark, Damian, Curnow, Sarah R, Dabscheck, Gabriel, Fahey, Michael C, Freeman, Jeremy L, Gupta, Sachin, Harvey, A Simon, Hildebrand, Michael S, Inder, Marie, Kanhangad, Manoj, Kornberg, Andrew J, Kothur, Kavitha, Lawson, John A, Leventer, Richard J, Malone, Stephen, Menezes, Manoj P, Mohammad, Shekeeb, Nagarajan, Lakshmi, Pillai, Sekhar, Pridmore, Clair, Procopis, Peter G, Sampaio, Hugo, Silberstein, Jonathon, Sinclair, Adriane, Smith, Nicholas, Subramanian, Gopinath, Troedson, Christopher, Ware, Tyson, White, Susan M

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Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy von Shoubridge, Cheryl, Jackson, Matilda, Grinton, Bronwyn, Berkovic, Samuel F., Scheffer, Ingrid E., Huskins, Shannon, Thomas, Alison, Ware, Tyson

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The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses von Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Haas, Matilda, Hock, Daniella H., Howting, Denise, Jackson, Matilda R., Kava, Maina P., Kemp, Madonna, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Lee, Joy, Long, Janet C., MacShane, Mandi, Madelli, Evanthia O., Martin, Ellenore M., Marum, Justine E., Mattiske, Tessa, McGill, Jim, Metke, Alejandro, Murray, Sean, Panetta, Julie, Phillips, Liza K., Quinn, Michael C.J., Ryan, Michael T., Schenscher, Sarah, Simons, Cas, Smith, Nicholas, Stroud, David A., Tchan, Michel C., Tom, Melanie, Wallis, Mathew, Ware, Tyson L., Welch, AnneMarie E., Wools, Christine, Wu, You, Christodoulou, John, Thorburn, David R.

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