Søgeresultater - Sadleir, Lynette

Febrile seizures af Sadleir, Lynette G, Scheffer, Ingrid E

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

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

Få fuldtekst Få fuldtekst Få fuldtekst

Double somatic mosaicism in a child with Dravet syndrome af Muir, Alison M., King, Chontelle, Schneider, Amy L., Buttar, Aman S., Scheffer, Ingrid E., Sadleir, Lynette G., Mefford, Heather C.

Få fuldtekst Få fuldtekst Få fuldtekst

Acute Flaccid Paralysis from Echovirus Type 33 Infection af Grimwood, Keith, Huang, Q. Sue, Sadleir, Lynette G., Nix, W. Allan, Kilpatrick, David R., Oberste, M. Steven, Pallansch, Mark A.

Få fuldtekst Få fuldtekst Få fuldtekst

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial af Scheffer, Ingrid E., Hulihan, Joe, Messenheimer, John, Ali, Shayma, Keenan, Ngaire, Griesser, Jim, Gutterman, Donna L., Sebree, Terri, Sadleir, Lynette G.

Få fuldtekst Få fuldtekst Få fuldtekst

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy af Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef

Få fuldtekst Få fuldtekst Få fuldtekst

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

Epilepsia Brief Communication: Inherited RORB pathogenic variants: overlap of photosensitive genetic generalized and occipital lobe epilepsy af Sadleir, Lynette G, de Valles-Ibáñez, Guillem, King, Chontelle, Coleman, Matthew, Mossman, Stuart, Paterson, Sarah, Nguyen, John, Berkovic, Samuel F, Mullen, Saul, Bahlo, Melanie, Hildebrand, Michael S., Mefford, Heather C, Scheffer, Ingrid E

Få fuldtekst Få fuldtekst Få fuldtekst

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures af Scheffer, Ingrid E., Grinton, Bronwyn E., Heron, Sarah E., Kivity, Sara, Afawi, Zaid, Iona, Xenia, Goldberg-Stern, Hadassa, Kinali, Maria, Andrews, Ian, Guerrini, Renzo, Marini, Carla, Sadleir, Lynette G., Berkovic, Samuel F., Dibbens, Leanne M.

Få fuldtekst Få fuldtekst Få fuldtekst

Parental Mosaicism in “De Novo” Epileptic Encephalopathies af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype af Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E.

Få fuldtekst Få fuldtekst Få fuldtekst

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures af 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

Få fuldtekst Få fuldtekst Få fuldtekst

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

Rare copy number variants are an important cause of epileptic encephalopathies af 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, Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.

Få fuldtekst Få fuldtekst Få fuldtekst

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

GRIN2A mutations cause epilepsy-aphasia spectrum disorders af Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C

Få fuldtekst Få fuldtekst Få fuldtekst

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome af 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.

Få fuldtekst Få fuldtekst Få fuldtekst

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions af Green, Timothy E, Motelow, Joshua E, Bennett, Mark F, Ye, Zimeng, Bennett, Caitlin A, Griffin, Nicole G, Damiano, John A, Leventer, Richard J, Freeman, Jeremy L, Harvey, A Simon, Lockhart, Paul J, Sadleir, Lynette G, Boys, Amber, Scheffer, Ingrid E, Major, Heather, Darbro, Benjamin W, Bahlo, Melanie, Goldstein, David B, Kerrigan, John F, Heinzen, Erin L, Berkovic, Samuel F, Hildebrand, Michael S

Få fuldtekst Få fuldtekst Få fuldtekst