Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes

Authors: Postma, Amber, Minderhoud, Crista A., Otte, Wim M., Jansen, Floor E., Gunning, W.B., Verhoeven, Judith S., Jongmans, Marian J., Zinkstok, Janneke R., Brilstra, Eva H.

Source: In Epilepsy & Behavior May 2024 154

Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Authors: Jansen, Anna, Lagae, Lieven, Bast, Thomas, von Spiczak, Sarah, Kluger, Gerhard, van Bogaert, Patrick, Gaily, Eija, Baer, Sarah, Auvin, Stéphane, Chin, Richard, Zuberi, Sameer, Dimova, Petia, Craiu, C Dana, Veggiotti, Pierangelo, Ramantani, Georgia, van Arnhem, Marleen M L ^*, van den Munckhof, Bart ^*, Arzimanoglou, Alexis, Perucca, Emilio, Metsähonkala, Liisa, Rubboli, Guido, Søndergaard Khinchi, Marianne, de Saint-Martin, Anne, Klotz, Kerstin A, Jacobs, Julia, Cross, J Helen, Garcia Morales, Irene, Otte, Wim M, van Teeseling, Heleen C, Leijten, Frans S S, Braun, Kees P J, Jansen, Floor E ^*

Source: In The Lancet Neurology February 2024 23(2):147-156

Toward responsible clinical n-of-1 strategies for rare diseases

Authors: Defelippe, Victoria M., J.M.W. van Thiel, Ghislaine, Otte, Willem M., Schutgens, Roger E.G., Stunnenberg, Bas, Cross, Helen J., O'Callaghan, Finbar, De Giorgis, Valentina, Jansen, Floor E., Perucca, Emilio, Brilstra, Eva H., Braun, Kees P.J.

Source: In Drug Discovery Today October 2023 28(10)

Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis

Authors: Stevelink, Remi, Al-Toma, Dania, Jansen, Floor E., Lamberink, Herm J., Asadi-Pooya, Ali A., Farazdaghi, Mohsen, Cação, Gonçalo, Jayalakshmi, Sita, Patil, Anuja, Özkara, Çiğdem, Aydın, Şenay, Gesche, Joanna, Beier, Christoph P., Stephen, Linda J., Brodie, Martin J., Unnithan, Gopeekrishnan, Radhakrishnan, Ashalatha, Höfler, Julia, Trinka, Eugen, Krause, Roland, Irelli, Emanuele Cerulli, Di Bonaventura, Carlo, Szaflarski, Jerzy P., Hernández-Vanegas, Laura E., Moya-Alfaro, Monica L., Zhang, Yingying, Zhou, Dong, Pietrafusa, Nicola, Specchio, Nicola, Japaridze, Giorgi, Beniczky, Sándor, Janmohamed, Mubeen, Kwan, Patrick, Syvertsen, Marte, Selmer, Kaja K., Vorderwülbecke, Bernd J., Holtkamp, Martin, Viswanathan, Lakshminarayanapuram G., Sinha, Sanjib, Baykan, Betül, Altindag, Ebru, von Podewils, Felix, Schulz, Juliane, Seneviratne, Udaya, Viloria-Alebesque, Alejandro, Karakis, Ioannis, D'Souza, Wendyl J., Sander, Josemir W., Koeleman, Bobby P.C., Otte, Willem M., Braun, Kees P.J.

Source: In eClinicalMedicine November 2022 53

Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study

Authors: De Ridder, Jessie, Kotulska, Katarzyna, Curatolo, Paolo, Jansen, Anna C, Aronica, Eleonora, Kwiatkowski, David J, Jansen, Floor E, Jóźwiak, Sergiusz, Lagae, Lieven, Anink, J, Benova, B, Benvenuto, A, Blazejczyk, M, Bongaarts, A, Borkowska, J, Breuillard, D, Chmielewski, D, Dabrowska, M, Domańska‐Pakieła, D, Emberti Gialloreti, L, Ferrier, CH, Feucht, M, Giannikou, K, Głowacka‐Walas, J, Hamieh, L, Haręza, A, Hertzberg, C, Hulshof, H, Iyer, A, Janssen, B, Jaworski, J, Kaczorowska‐Frontczak, M, Krsek, P, Lehmann, K, Lemmens, K, Leusman, A, Maćkowiak, N, Mills, JD, Moavero, R, Muehlebner, A, Nabbout, R, Riney, K, Sadowski, K, Samueli, S, Scheldeman, C, Scholl, T, Schooneveld, M, Sciuto, A, Sijko, K, Slowinska, M, Tempes, A, Urbańska, M, Scheppingen, J, Verhelle, B, Vervisch, J, Weschke, B, Wojdan, K

Source: Developmental medicine & child neurology. 64(4):495-501

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175612248.0x000001&indx=1&recIds=ETOCvdc_100175612248.0x000001

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

Authors: Hulshof, Hanna M., Kuijf, Hugo J., Kotulska, Katarzyna, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Krsek, Pavel, Feucht, Martha, Nabbout, Rima, Lagae, Lieven, Jansen, Anna, Otte, Wim M., Lequin, Maarten H., Sijko, Kamil, Benvenuto, Arianna, Hertzberg, Christoph, Benova, Barbora, Scholl, Theresa, De Ridder, Jessie, Aronica, Eleonora M.A., Kwiatkowski, David J., Jozwiak, Sergiusz, Jurkiewicz, Elzbieta, Braun, Kees, Jansen, Floor E.

Source: Neurology. 98(12):e1216-e1225

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165405762.0x000001&indx=1&recIds=ETOCvdc_100165405762.0x000001

High-resolution electric source imaging for presurgical evaluation of tuberous sclerosis complex patients

Authors: Mouthaan, Brian E., Jansen, Floor E., Colon, Albert J., Huiskamp, Geertjan M., van Eijsden, Pieter, Leijten, Frans S.S., Braun, Kees P.J.

Source: Clinical neurophysiology. 133:126-134

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151133402.0x000001&indx=1&recIds=ETOCvdc_100151133402.0x000001

Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex

Authors: Lavanga, Mario ^*, De Ridder, Jessie, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Jahodova, Alena, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Van Huffel, Sabine, Caicedo, Alexander

Source: In Biomedical Signal Processing and Control July 2021 68

High-frequency oscillations recorded with surface EEG in neonates with seizures

Authors: Noorlag, Lotte, van 't Klooster, Maryse A., van Huffelen, Alexander C., van Klink, Nicole E.C., Benders, Manon J.N.L., de Vries, Linda S., Leijten, Frans S.S., Jansen, Floor E., Braun, Kees P.J., Zijlmans, Maeike

Source: In Clinical Neurophysiology July 2021 132(7):1452-1461

Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

Authors: Curatolo, P., Lagae, L., Jansen, A., Aronica, E., Kwiatkowski, D., Weschke, B., Wojdan, K., Sijko, K., Głowacka, J., Borkowska, J., Sadowski, K., Domańska-Pakieła, D., Anink, J., Benvenuto, A., Blazejczyk, M., Bongaerts, A., Chmielewski, D., Dabrowska, M., De Ridder, J., Giannikou, K., Hamieh, L., Haręza, A., Iyer, A., Janssen, B., Jaworski, J., Kaczorowska-Frontczak, M., Lehmann, K., Leusman, A., Maćkowiak, N., Mills, J., Muelebner, A., Scheldeman, C., Sciuto, A., Slowinska, M., Tempes, A., van Scheppingen, J., Verhelle, B., Vervisch, J., Urbańska, M., Hulshof, Hanna M., Slot, Emma M.H., Lequin, Maarten, Breuillard, Delphine, Boddaert, Nathalie, Jozwiak, Sergiusz, Kotulska, Katarzyna, Riney, Kate, Feucht, Martha, Samueli, Sharon, Scholl, Theresa, Krsek, Pavel, Benova, Barbora, Braun, Kees P.J., Jansen, Floor E., Nabbout, Rima

Source: In The Journal of Pediatrics June 2021 233:156-162

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Authors: Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., Krsek, Pavel

Source: In European Journal of Paediatric Neurology January 2021 30:88-96

The epileptogenic zone in children with tuberous sclerosis complex is characterized by prominent features of focal cortical dysplasia

Authors: Hulshof, Hanna M., Benova, Barbora, Krsek, Pavel, Kyncl, Martin, Lequin, Maarten H., Belohlavkova, Anezka, Jezdik, Petr, Braun, Kees P. J., Jansen, Floor E.

Source: Epilepsia open. 6(4):663-671

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135775920.0x000001&indx=1&recIds=ETOCvdc_100135775920.0x000001

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Authors: Stevelink, Remi, Luykx, Jurjen J., Lin, Bochao D., Leu, Costin, Lal, Dennis, Smith, Alexander W., Schijven, Dick, Carpay, Johannes A., Rademaker, Koen, Rodrigues Baldez, Roiza A., Devinsky, Orrin, Braun, Kees P. J., Jansen, Floor E., Smit, Dirk J. A., Koeleman, Bobby P. C., Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., Haan, Gerrit‐Jan, De Jonghe, Peter, Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Kasteleijn‐Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes‐Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping‐Wing, Nöthen, Markus M., Nürnberg, Peter, O'Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slavé, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Strauch, Konstantin, Striano, Pasquale, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi, Mameniskiene, Ruta, Weisenberg, Judith, Whelan, Christopher D., Widdess‐Walsh, Peter, Wolff, Markus, Wolking, Stefan, Yang, Wanling, Zara, Federico, Zimprich, Fritz, Feng, Yen‐Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Neale, Benjamin M., Cotsapas, Chris, Dixon‐Salazar, Tracy, Guerrini, Renzo, Kamalakaran, Sitharthan, Stewart, Randy, Weckhuysen, Sarah, Freyer, Catharine, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Bennett, Caitlin A., Johns, Esther M.C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Knake, Susanne, Zsurka, Gábor, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Rademacher, Annika, Baalen, Andreas, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller‐Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Maisch, Ana F., Schulze‐Bonhage, Andreas, Schubert‐Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Rees, Mark I., Chung, Seo‐Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Baum, Larry W., Lui, Colin H.T., Barišić, Nina, Shukralla, Arif, El‐Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Madia, Francesca, Stella Vari, Maria, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu‐Eken, Aslı, Bebek, Nerses, Uğur‐İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Lo, Warren, Schachter, Steven, Kuzniecky, Ruben I., Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A.

Source: Epilepsia. 62(7):1518-1527

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124895386.0x000001&indx=1&recIds=ETOCvdc_100124895386.0x000001

Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes

Authors: De Ridder, Jessie, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska‐Pakieła, Dorota, Kaczorowska‐Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Anink, J, Benvenuto, A, Blazejczyk, M, Bongaarts, A, Borkowska, J, Breuillard, D, Chmielewski, D, Dabrowska, M, Emberti Gialloreti, L, Giannikou, K, Głowacka‐Walas, J, Hamieh, L, Haręza, A, Hulshof, H, Iyer, A, Janssen, B, Jaworski, J, Lehmann, K, Leusman, A, Maćkowiak, N, Mills, J. D., Muehlebner, A, Sadowski, K, Scheldeman, C, Scholl, T, Schooneveld, M, Sciuto, A, Sijko, K, Slowinska, M, Tempes, A, Urbańska, M, van Scheppingen, J

Source: Epilepsia. 62(5):1208-1219

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121146721.0x000001&indx=1&recIds=ETOCvdc_100121146721.0x000001

MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

Authors: Korotkov, Anatoly, Sim, Nam Suk, Luinenburg, Mark J., Anink, Jasper J., Scheppingen, Jackelien, Zimmer, Till S., Bongaarts, Anika, Broekaart, Diede W. M., Mijnsbergen, Caroline, Jansen, Floor E., Van Hecke, Wim, Spliet, Wim G. M., Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Kršek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, Lee, Jeong H., Mills, James D., Vliet, Erwin A., Aronica, Eleonora

Source: Neuropathology & applied neurobiology. 47(6):796-811

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131519085.0x000001&indx=1&recIds=ETOCvdc_100131519085.0x000001

Balloon cells promote immune system activation in focal cortical dysplasia type 2b

Authors: Zimmer, Till S., Broekaart, Diede W. M., Luinenburg, Mark, Mijnsbergen, Caroline, Anink, Jasper J., Sim, Nam Suk, Michailidou, Iliana, Jansen, Floor E., Rijen, Peter C., Lee, Jeong Ho, François, Liesbeth, Eyll, Jonathan, Dedeurwaerdere, Stefanie, Vliet, Erwin A., Mühlebner, Angelika, Mills, James D., Aronica, Eleonora

Source: Neuropathology & applied neurobiology. 47(6):826-839

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131518931.0x000001&indx=1&recIds=ETOCvdc_100131518931.0x000001

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

Authors: Sanders, Maurits W. C. B., Koeleman, Bobby P. C., Brilstra, Eva H., Jansen, Floor E., Baldassari, Sara, Chipaux, Mathilde, Sim, Nam Suk, Ko, Ara, Kang, Hoon‐Chul, Blümcke, Ingmar, Lal, Dennis, Baulac, Stéphanie, Lee, Jeong Ho, Aronica, Eleonora, Braun, Kees P. J.

Source: Epilepsia (Series 4); Dec2024, Vol. 65 Issue 12, pe209-e215, 7p

Subject Terms: FOCAL cortical dysplasia, EPILEPSY surgery, GENETIC variation, PARTIAL epilepsy, PEOPLE with epilepsy

N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward.

Authors: Defelippe, Victoria M., Brilstra, Eva H., Otte, Willem M., Cross, Helen J., O'Callaghan, Finbar, De Giorgis, Valentina, Poduri, Annapurna, Lerche, Holger, Sisodiya, Sanjay, Braun, Kees P. J., Jansen, Floor E., Perucca, Emilio

Source: Epilepsia (Series 4); Nov2024, Vol. 65 Issue 11, p3119-3137, 19p

Subject Terms: SEIZURES (Medicine), INDIVIDUALIZED medicine, INFORMATION design, PEOPLE with epilepsy, CRIME & the press, EPILEPSY

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Authors: Ogórek, Barbara, Hamieh, Lana, Hulshof, Hanna M., Lasseter, Kathryn, Klonowska, Katarzyna, Kuijf, Hugo, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Benova, Barbora, Aronica, Eleonora, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Janson, Stef, Kozlowski, Piotr, Urbanska, Malgorzata, Jaworski, Jacek, Jozwiak, Sergiusz, Jansen, Floor E., Kotulska, Katarzyna, Kwiatkowski, David J.

Source: In Genetics in Medicine September 2020 22(9):1489-1497

Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations

Authors: Hansmann, Patrick, Brückner, Anne, Kiontke, Stephan, Berkenfeld, Bianca, Seebohm, Guiscard, Brouillard, Pascal, Vikkula, Miikka, Jansen, Floor E., Nellist, Mark, Oeckinghaus, Andrea, Kümmel, Daniel

Source: In Structure 4 August 2020 28(8):933-942