Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

Authors: Harris, Sarah C., Chong, Karen, Chitayat, David, Gilmore, Kelly L., Jorge, Alexander A. L., Freire, Bruna L., Lerario, Antonio, Shannon, Patrick, Cope, Heidi, Gallentine, William B., Le Guyader, Gwenal, Bilan, Frederic, Létard, Pascaline, Davis, Erica E., Vora, Neeta L.

Source: American journal of medical genetics.Part A. 191(5):1282-1292

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194505257.0x000001&indx=1&recIds=ETOCvdc_100194505257.0x000001

Delineating the epilepsy phenotype of NGLY1 deficiency

Authors: Levy, Rebecca J., Frater, Christina H., Gallentine, William B., Phillips, Jennifer M., Ruzhnikov, Maura R.

Source: Journal of inherited metabolic disease. 45(3):571-583

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Authors: Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Khan, Tahir N., Khan, Kamal, Reynolds, Hannah, McDonald, Marie T., Gallentine, William B., Baig, Shahid M.

Source: In The American Journal of Human Genetics 3 January 2019 104(1):94-111

Alterations in coordinated EEG activity precede the development of seizures in comatose children

Authors: Vakorin, Vasily A., Nita, Dragos A., Payne, Eric T., McBain, Kristin L., Frndova, Helena, Go, Cristina, Ribary, Urs, Abend, Nicholas S., Gallentine, William B., Nash, Kendall B., Hutchison, James S., Parshuram, Christopher S., Snead, O. Carter, van Straaten, Ilse E.C.W., Stam, Cornelis J., Doesburg, Sam M., Hahn, Cecil D.

Source: In Clinical Neurophysiology July 2021 132(7):1505-1514

Institutional Pediatric Convulsive Status Epilepticus Protocol Decreases Time to First and Second Line Anti-Seizure Medication Administration

Authors: Trau, Steven P., Sterrett, Emily C., Feinstein, Lydia, Tran, Linh, Gallentine, William B., Tchapyjnikov, Dmitry ^*

Source: In Seizure: European Journal of Epilepsy October 2020 81:263-268

Evaluation of Diagnostic Criteria for Hashimoto Encephalopathy Among Children and Adolescents

Authors: Adams, Ashley V., Mooneyham, GenaLynne C., Van Mater, Heather, Gallentine, William

Source: In Pediatric Neurology June 2020 107:41-47

A Genocentric Approach to Discovery of Mendelian Disorders

Authors: Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A.

Source: In The American Journal of Human Genetics 7 November 2019 105(5):974-986

Survey of Pediatric ICU EEG Monitoring–Reassessment After a Decade.

Authors: Fung, France W., Carpenter, Jessica L., Chapman, Kevin E., Gallentine, William, Giza, Christopher C., Goldstein, Joshua L., Hahn, Cecil D., Loddenkemper, Tobias, Matsumoto, Joyce H., Press, Craig A., Riviello Jr, James J., Abend, Nicholas S.

Source: Journal of Clinical Neurophysiology; Jul2024, Vol. 41 Issue 5, p458-472, 15p

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Authors: Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Uysal, Betül, Schwarz, Niklas, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Kruer, Michael C., Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Haan, Eric, Smith, Nicholas, Corbett, Mark A., MacLennan, Alastair H., Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H., Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Casas, Kari, El Achkar, Christelle M., Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Helbig, Ingo, Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.

Source: In The American Journal of Human Genetics 1 November 2018 103(5):666-678

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Authors: Cardinale, Kathleen M, Bocharnikov, Alexandra, Hart, Sarah J, Baker, Jane Ann, Eckstein, Christopher, Jasien, Joan M, Gallentine, William, Worley, Gordon, Kishnani, Priya S, Van Mater, Heather

Source: Developmental medicine & child neurology. 61(7):847-851

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Authors: Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Davis, Erica E., Katsanis, Nicholas

Source: American journal of human genetics. 104(1):94-111

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100076653420.0x000001&indx=1&recIds=ETOCvdc_100076653420.0x000001

Epilepsy in neurofibromatosis type 1

Authors: Pecoraro, Anthony, Arehart, Eric, Gallentine, William, Radtke, Rodney, Smith, Edward, Pizoli, Carolyn, Kansagra, Sujay, Abdelnour, Elie, McLendon, Roger, Mikati, Mohamad A.

Source: In Epilepsy & Behavior August 2017 73:137-141

Hippocampal sclerosis and temporal lobe epilepsy following febrile status epilepticus: The FEBSTAT study.

Authors: Lewis, Darrell V., Voyvodic, James, Shinnar, Shlomo, Chan, Stephen, Bello, Jacqueline A., Moshé, Solomon L., Nordli, Douglas R., Frank, L. Matthew, Pellock, John M., Hesdorffer, Dale C., Xu, Yuan, Shinnar, Ruth C., Seinfeld, Syndi, Epstein, Leon G., Masur, David, Gallentine, William, Weiss, Erica, Deng, Xiaoyan, Sun, Shumei

Source: Epilepsia (Series 4); Jun2024, Vol. 65 Issue 6, p1568-1580, 13p

Subject Terms: HIPPOCAMPAL sclerosis, TEMPORAL lobe epilepsy, EPILEPSY, STATUS epilepticus, MAGNETIC resonance imaging, BRAIN abnormalities

Randomized trial of lacosamide versus fosphenytoin for nonconvulsive seizures

Authors: Husain, Aatif M., Lee, Jong W., Kolls, Bradley J., Hirsch, Lawrence J., Halford, Jonathan J., Gupta, Puneet K., Minazad, Yafa, Jones, Jennifer M., LaRoche, Suzette M., Herman, Susan T., Swisher, Christa B., Sinha, Saurabh R., Palade, Adriana, Dombrowski, Keith E., Gallentine, William B., Hahn, Cecil D., Gerard, Elizabeth E., Bhapkar, Manjushri, Lokhnygina, Yuliya, Westover, M. Brandon

Source: Annals of neurology. 83(6):1174-1185

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100091880326.0x000001&indx=1&recIds=ETOCvdc_100091880326.0x000001

Evaluation and Management of Autoimmune Encephalitis

Authors: Mooneyham, GenaLynne C., Gallentine, William, Van Mater, Heather

Source: Child and adolescent psychiatric clinics of North America. 27(1):37-52

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182964952.0x000001&indx=1&recIds=ETOCvdc_100182964952.0x000001

Cognitive functioning one month and one year following febrile status epilepticus

Authors: Weiss, Erica F., Masur, David, Shinnar, Shlomo, Hesdorffer, Dale C., Hinton, Veronica J., Bonner, Melanie, Rinaldi, Julie, Van de Water, Virginia, Culbert, James, Shinnar, Ruth C., Seinfeld, Syndi, Gallentine, William, Nordli, Douglas R., Jr, Frank, L. Mathew, Epstein, Leon, Moshé, Solomon L., Sun, Shumei

Source: In Epilepsy & Behavior November 2016 64 Part A:283-288

International Consensus Recommendations for the Treatment of Pediatric NMDAR Antibody Encephalitis

Authors: Nosadini, Margherita, Thomas, Terrence, Eyre, Michael, Anlar, Banu, Armangue, Thais, Benseler, Susanne M., Cellucci, Tania, Deiva, Kumaran, Gallentine, William, Gombolay, Grace, Gorman, Mark P., Hacohen, Yael, Jiang, Yuwu, Lim, Byung Chan, Muscal, Eyal, Ndondo, Alvin, Neuteboom, Rinze, Rostásy, Kevin, Sakuma, Hiroshi, Sharma, Suvasini, Tenembaum, Silvia Noemi, Van Mater, Heather Ann, Wells, Elizabeth, Wickstrom, Ronny, Yeshokumar, Anusha K., Irani, Sarosh R., Dalmau, Josep, Lim, Ming, Dale, Russell C.

Source: Neurology.Neuroimmunology & neuroinflammation. 8(5)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188269312.0x000001&indx=1&recIds=ETOCvdc_100188269312.0x000001

Development and validation of a seizure prediction model in critically ill children

Authors: Yang, Amy, Arndt, Daniel H., Berg, Robert A., Carpenter, Jessica L., Chapman, Kevin E., Dlugos, Dennis J., Gallentine, William B., Giza, Christopher C., Goldstein, Joshua L., Hahn, Cecil D., Lerner, Jason T., Loddenkemper, Tobias, Matsumoto, Joyce H., Nash, Kendall B., Payne, Eric T., Sánchez Fernández, Iván, Shults, Justine, Topjian, Alexis A., Williams, Korwyn, Wusthoff, Courtney J., Abend, Nicholas S.

Source: In Seizure: European Journal of Epilepsy February 2015 25:104-111

Chapter 5 - Neuroimmunologic aspects of febrile status epilepticus

Authors: Gallentine, William Brian

Source: In Febrile Seizures Edition: Second Edition. 2023:95-113

Electrographic Seizures after Convulsive Status Epilepticus in Children and Young Adults: A Retrospective Multicenter Study

Authors: Sánchez Fernández, Iván, Abend, Nicholas S., Arndt, Daniel H., Carpenter, Jessica L., Chapman, Kevin E., Cornett, Karen M., Dlugos, Dennis J., Gallentine, William B., Giza, Christopher C., Goldstein, Joshua L., Hahn, Cecil D., Lerner, Jason T., Matsumoto, Joyce H., McBain, Kristin, Nash, Kendall B., Payne, Eric, Sánchez, Sarah M., Williams, Korwyn, Loddenkemper, Tobias

Source: In The Journal of Pediatrics February 2014 164(2):339-346