Relevamiento sobre la atención médica en pacientes con epilepsia durante la pandemia del coronavirus

Alternate Title: Survey on medical care of patients with epilepsy during the coronavirus pandemic (English)

Authors: Bein, Natali, Casales, Federico, García Vargas, Augusto, Cialdella, Lucía, Piris Mannucci, Natalia, Consalvo, Damián

Source: In Neurología Argentina July-September 2022 14(3):141-146

Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Authors: Koko, Mahmoud, Motelow, Joshua E., Stanley, Kate E., Bobbili, Dheeraj R., Dhindsa, Ryan S., May, Patrick, Alldredge, Brian K., Allen, Andrew S., Altmüller, Janine, Amrom, Dina, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo‐Kyung, Cieuta‐Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna‐Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Zimprich, Fritz

Source: Epilepsia. 63(3):723-735

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100142099578.0x000001&indx=1&recIds=ETOCvdc_100142099578.0x000001

Barriers to generic antiseizure medication use: Results of a global survey by the International League Against Epilepsy Generic Substitution Task Force

Authors: Niyongere, Jenna, Welty, Timothy E., Bell, Michelle W., Consalvo, Damian, Hammond, Charles, Leung, Howan, Patsalos, Philip N., Ryan, Melody, Suansanae, Thanarat, Zhou, Dong, Zuellig, Hazel

Source: Epilepsia open. 7(2):260-270

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151829602.0x000001&indx=1&recIds=ETOCvdc_100151829602.0x000001

Diverse genetic causes of polymicrogyria with epilepsy

Authors: Allen, Andrew S, Aggarwal, Vimla, Berkovic, Samuel F, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Freyer, Catharine, Goldstein, David B, Guerrini, Renzo, Glauser, Tracy, Heinzen, Erin L, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Poduri, Annapurna, Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K, Scheffer, Ingrid E, Sherr, Elliott H, Abou‐Khalil, Bassel, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alexis, Cascino, Greg, Consalvo, Damian, Crumrine, Pat, Devinsky, Orrin, Fountain, Nathan, Friedman, Dan, Geller, Eric, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Joshi, Sucheta, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Lowenstein, Daniel H., Motika, Paul V., Paolicchi, Juliann M., Parent, Jack M., Scheffer, Ingrid, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sperling, Michael, Smith, Michael C., Sullivan, Joseph, Vining, Eileen P. G., Von Allmen, Gretchen K., Widdess‐Walsh, Peter, Winawer, Melodie R., Bautista, Jocelyn, Fiol, Miguel, Hayward, Jean, Helmers, Sandra, Park, Kristen, Sirven, Joseph, Lin Thio, Liu, Venkat, Anu, Weisenberg, Judith, Kuperman, Rachel, McGuire, Shannon, Novotny, Edward, Sadleir, Lynette

Source: Epilepsia. 62(4):973-983

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140395513.0x000001&indx=1&recIds=ETOCvdc_100140395513.0x000001

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Authors: Salinas, Valeria, Vega, Patricia, Piccirilli, María Victoria, Chicco, Carla, Ciraolo, Carlos, Christiansen, Silvia, Consalvo, Damián, Perez-Maturo, Josefina, Medina, Nancy, González-Morón, Dolores, Novaro, Virginia, Perrone, Cecilia, García, María del Carmen, Agosta, Guillermo, Silva, Walter, Kauffman, Marcelo

Source: In European Journal of Medical Genetics November 2019 62(11)

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Authors: Allen, Andrew S, Bellows, Susannah T, Berkovic, Samuel F, Bridgers, Joshua, Burgess, Rosemary, Cavalleri, Gianpiero, Chung, Seo-Kyung, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Epstein, Michael P, Freyer, Catharine, Goldstein, David B, Heinzen, Erin L, Hildebrand, Michael S, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mayeux, Richard, Mebane, Caroline, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slavgé, Pickrell, William O, Poduri, Annapurna, Radtke, Rodney A, Rees, Mark I, Regan, Brigid M, Ren, Zhong, Scheffer, Ingrid E, Sills, Graeme J, Thomas, Rhys H, Wang, Quanli, Abou-Khalil, Bassel, Alldredge, Brian K, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack M, Park, Kristen, Sadleir, Lynette G, Shellhaas, Renée A., Sherr, Elliott H, Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R

Source: In The Lancet Neurology February 2017 16(2):135-143

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Authors: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

Source: In The American Journal of Human Genetics 2 October 2014 95(4):360-370

Imágenes por resonancia magnética anormales como predictoras de mal pronóstico en epilepsia focal

Alternate Title: Abnormal magnetic resonance imaging as is a predictor of poor outcome in focal epilepsy (English)

Authors: Consalvo, Damián E., Kauffman, Marcelo A., Oddo, Silvia A., Pereira de Silva, Nahuel, Kochen, Silvia S.

Source: In Neurología Argentina April-June 2014 6(2):61-67

Alteraciones extrahipocámpicas en epilepsia temporal mesial con esclerosis del hipocampo

Alternate Title: Extrahippocampal alterations in mesial temporal lobe epilepsy with hippocampal sclerosis (English)

Authors: Consalvo, Damián E., Kauffman, Marcelo A., Oddo, Silvia A., Rey, Raúl C., Kochen, Silvia S.

Source: In Neurología Argentina April-June 2012 4(2):53-58

Association between equivalent current dipole source localization and focal cortical dysplasia in epilepsy patients

Authors: Blenkmann, Alejandro, Seifer, Gustavo, Princich, Juan Pablo, Consalvo, Damian, Kochen, Silvia, Muravchik, Carlos

Source: In Epilepsy Research February 2012 98(2-3):223-231

Doublecortin (DCX) immunoreactivity in hippocampus of chronic refractory temporal lobe epilepsy patients with hippocampal sclerosis

Authors: D’Alessio, Luciana, Konopka, Hector, López, Ester María, Seoane, Eduardo, Consalvo, Damián, Oddo, Silvia, Kochen, Silvia, López-Costa, Juan José

Source: In Seizure: European Journal of Epilepsy 2010 19(9):567-572

ApoE ɛ4 genotype and the age at onset of temporal lobe epilepsy: A case–control study and meta-analysis

Authors: Kauffman, Marcelo Andrés, Consalvo, Damián, Moron, Dolores Gonzalez, Lereis, Virginia Pujol, Kochen, Silvia

Source: In Epilepsy Research 2010 90(3):234-239

Psychotic disorders in Argentine patients with refractory temporal lobe epilepsy: A case–control study

Authors: D’Alessio, Luciana, Giagante, Brenda, Papayannis, Cristina, Oddo, Silvia, Silva, Walter, Solís, Patricia, Donnoli, Vicente, Kauffman, Marcelo, Consalvo, Damián, Zieher, Luis María, Kochen, Silvia

Source: In Epilepsy and Behavior 2009 14(4):604-609

Association study between interleukin 1β gene and epileptic disorders: a HuGe review and meta-analysis

Authors: Kauffman, Marcelo Andrés ^*, Moron, Dolores Gonzalez, Consalvo, Damian, Bello, Ricardo, Kochen, Silvia

Source: In Genetics in Medicine February 2008 10(2):83-88

Psychiatric disorders in patients with psychogenic non-epileptic seizures, with and without comorbid epilepsy

Authors: D’Alessio, Luciana, Giagante, Brenda, Oddo, Silvia, Silva W, Walter, Solís, Patrícia, Consalvo, Damián, Kochen, Silvia

Source: In Seizure: European Journal of Epilepsy 2006 15(5):333-339

A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels.

Authors: Casalia, Mariana L., Casabona, Juan Cruz, García, Corina, Cavaliere Candedo, Verónica, Quintá, Héctor Ramiro, Farías, María Isabel, Gonzalez, Joaquín, Gonzalez Morón, Dolores, Córdoba, Marta, Consalvo, Damian, Mostoslavsky, Gustavo, Urbano, Francisco J., Pasquini, Juana, Murer, Mario Gustavo, Rela, Lorena, Kauffman, Marcelo A., Pitossi, Fernando J.

Source: Stem Cell Research & Therapy; 11/25/2021, Vol. 12 Issue 1, p1-16, 16p

Subject Terms: CHILDREN with epilepsy, CHILDHOOD epilepsy, PEOPLE with epilepsy, INDUCED pluripotent stem cells, GENE expression, NEURONS, AXONS

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Síndrome neuroléptico maligno asociado a encefalitis autoinmune por anticuerpos contra el receptor NMDA

Alternate Title: Neuroleptic malignant syndrome associated with anti-NMDA receptor encephalitis (English)

Authors: Pastorino Cané, Valeria, Lerchundi, Florencia, Sassul, Fernando, Consalvo, Damián E., Amores, Mirtha, Merovich, Mariana

Source: In Neurología Argentina January-March 2019 11(1):36-39

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