A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity von Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef

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Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk von Myers, Kenneth A., Bello‐Espinosa, Luis E., Symonds, Joseph D., Zuberi, Sameer M., Clegg, Robin, Sadleir, Lynette G., Buchhalter, Jeffrey, Scheffer, Ingrid E.

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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy von Bagnall, Richard D., Crompton, Douglas E., Petrovski, Slavé, Lam, Lien, Cutmore, Carina, Garry, Sarah I., Sadleir, Lynette G., Dibbens, Leanne M., Cairns, Anita, Kivity, Sara, Afawi, Zaid, Regan, Brigid M., Duflou, Johan, Berkovic, Samuel F., Scheffer, Ingrid E., Semsarian, Christopher

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome von Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

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Rare copy number variants are an important cause of epileptic encephalopathies von Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.

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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy von Hildebrand, Michael S., Griffin, Nicole G., Damiano, John A., Cops, Elisa J., Burgess, Rosemary, Ozturk, Ezgi, Jones, Nigel C., Leventer, Richard J., Freeman, Jeremy L., Harvey, A. Simon, Sadleir, Lynette G., Scheffer, Ingrid E., Major, Heather, Darbro, Benjamin W., Allen, Andrew S., Goldstein, David B., Kerrigan, John F., Berkovic, Samuel F., Heinzen, Erin L.

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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency von Arsov, Todor, Mullen, Saul A., Damiano, John A., Lawrence, Kate M., Huh, Linda L., Nolan, Melinda, Young, Helen, Thouin, Anaïs, Dahl, Hans-Henrik M., Berkovic, Samuel F., Crompton, Douglas E., Sadleir, Lynette G., Scheffer, Ingrid E.

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Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children von Poke, Gemma, Stanley, James, Scheffer, Ingrid E., Sadleir, Lynette G.

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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? von Bleakley, Lauren E., Soh, Ming S., Bagnall, Richard D., Sadleir, Lynette G., Gooley, Samuel, Semsarian, Christopher, Scheffer, Ingrid E., Berkovic, Samuel F., Reid, Christopher A.

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Clinical genetic study of the epilepsy‐aphasia spectrum von Tsai, Meng‐Han, Vears, Danya F., Turner, Samantha J., Smith, Robert L., Berkovic, Samuel F., Sadleir, Lynette G., Scheffer, Ingrid E.

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families von Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.

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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery von Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.

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Efficacy of cannabinoids in paediatric epilepsy von Ali, Shayma, Scheffer, Ingrid E, Sadleir, Lynette G

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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report von Nyaga, Denis M., Hildebrand, Michael S., Valles‐Ibáñez, Guillem, Keenan, Ngaire F., Ye, Zimeng, LaFlamme, Christy W., Mefford, Heather C., Bennett, Mark F., Bahlo, Melanie, Sadleir, Lynette G.

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Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out huma... von Malerba, Natascia, Benzoni, Patrizia, Squeo, Gabriella Maria, Milanesi, Raffaella, Giannetti, Federica, Sadleir, Lynette G., Poke, Gemma, Augello, Bartolomeo, Croce, Anna Irma, Barbuti, Andrea, Merla, Giuseppe

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Indications and prescribing patterns of antiseizure medications in children in New Zealand von Ali, Shayma, Stanley, James, Davis, Suzanne, Keenan, Ngaire, Scheffer, Ingrid E., Sadleir, Lynette G.

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Parental Mosaicism in “De Novo” Epileptic Encephalopathies von Myers, Candace T, Hollingsworth, Georgina, Muir, Alison M, Schneider, Amy L, Thuesmunn, Zoe, Knupp, Allison, King, Chontelle, Lacroix, Amy, Mehaffey, Michele G, Berkovic, Samuel F, Carvill, Gemma L, Sadleir, Lynette G, Scheffer, Ingrid E, Mefford, Heather C

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Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype von de Valles‐Ibáñez, Guillem, Hildebrand, Michael S., Bahlo, Melanie, King, Chontelle, Coleman, Matthew, Green, Timothy E., Goldsmith, John, Davis, Suzanne, Gill, Deepak, Mandelstam, Simone, Scheffer, Ingrid E., Sadleir, Lynette G.

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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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SUDEP risk and autonomic dysfunction in genetic epilepsies von Sahly, Ahmed N., Shevell, Michael, Sadleir, Lynette G., Myers, Kenneth A.

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