Search Results - Dana Craiu

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  1. 1
    Co‐occurring malformations of cortical development and <i><scp>SCN</scp>1A</i> gene mutations

    Co‐occurring malformations of cortical development and <i><scp>SCN</scp>1A</i> gene mutations by Carmen Barba, Elena Parrini, Roland Coras, Anna Galuppi, Dana Craiu, Gerhard Kluger, Antonia Parmeggiani, Tom Pieper, Thomas Schmitt‐Mechelke, Pasquale Striano, Flavio Giordano, Ingmar Blümcke, Renzo Guerrini

    Published 2014
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  2. 2
    Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the <scp>ILAE</scp> – Commission on European Affairs and the European Epilepsy Monitoring Unit Association

    Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the <scp>ILAE</scp> – Commission on European Affairs and the European Epilepsy Mo... by Sándor Beniczky, Miri Y. Neufeld, Beate Diehl, Judith Dobesberger, Eugen Trinka, Rūta Mameniškienė, Sylvain Rheims, António Gil‐Nagel, Dana Craiu, Ronit Pressler, David Krýsl, Angelina Lebedinsky, Laura Tassi, Guido Rubboli, Philippe Ryvlin

    Published 2016
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  3. 3
    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy by Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, Candace T. Myers, Heather C. Mefford, Aarno Palotie, Ingo Helbig, Jochen C. Meier, Peter De Jonghe, Sarah Weckhuysen, Günter Schwarz

    Published 2015
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  4. 4
    Summary of recommendations for the management of infantile seizures: Task<scp>F</scp>orce<scp>R</scp>eport for the<scp>ILAE C</scp>ommission of<scp>P</scp>ediatrics

    Summary of recommendations for the management of infantile seizures: Task<scp>F</scp>orce<scp>R</scp>eport for the<scp>ILAE C</scp>ommission of<scp>P</scp>ediatrics by Jo M. Wilmshurst, William D. Gaillard, Kollencheri Puthenveettil Vinayan, Tammy N. Tsuchida, Perrine Plouin, Patrick Van Bogaert, Jaime Carrizosa, Maurizio Elia, Dana Craiu, N. Jović, Doug Nordli, Deborah Hirtz, Virginia Wong, Tracy A. Glauser, Eli M. Mizrahi, J. Helen Cross

    Published 2015
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  5. 5
    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene by Sara Matricardi, Paola De Liso, Elena Freri, Paola Costa, Barbara Castellotti, Stefania Magri, Cinzia Gellera, Tiziana Granata, Luciana Musante, Gaëtan Lesca, Julie Oertel, Dana Craiu, Trine Bjørg Hammer, Rikke S. Møller, Nina Barišić, Rami Abou Jamra, Tilman Polster, Federico Vigevano, Carla Marini

    Published 2020
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  6. 6
    Genetic heterogeneity in infantile spasms

    Genetic heterogeneity in infantile spasms by Alison M. Muir, Candace T. Myers, Nancy Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman‐Zacharska, Renzo Guerrini, Anna‐Elina Lehesjoki, Carla Marini, Rikke S. Møller, José M. Serratosa, Katalin Štěrbová, Pasquale Striano, Sarah von Spiczak, Sarah Weckhuysen, Heather C. Mefford

    Published 2019
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  7. 7
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database by Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev

    Published 2015
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  8. 8
    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures by Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Published 2015
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  9. 9
    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia by Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva H. Brilstra, Felicitas Becker, Nina Barišić, Dana Craiu, Kees P. J. Braun, Dennis Lal, Hölger Thiele, Julian Schubert, Yvonne G. Weber, Ruben van ‘t Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P. C. Koeleman

    Published 2015
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  10. 10
    Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery

    Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery by Teia Kobulashvili, Julia Höfler, Judith Dobesberger, Florian Ernst, Philippe Ryvlin, J. Helen Cross, Kees P. J. Braun, Petia Dimova, Stefano Francione, Hrvoje Hečimović, Christoph Helmstaedter, Vasilios Κ. Kimiskidis, Morten I. Lossius, Kristina Malmgren, Petr Marusič, Bernhard J. Steinhoff, Paul Boon, Dana Craiu, Norman Delanty, Dániel Fabó, António Gil‐Nagel, Alla Guekht, Édouard Hirsch, Reetta Kälviäinen, Rūta Mameniškienė, Çiğdem Özkara, Margitta Seeck, Guido Rubboli, Pavel Kršek, Sylvain Rheims, Eugen Trinka

    Published 2016
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  11. 11
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy by Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S. Møller, Bernd A. Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, Annapurna Poduri, Yvonne G. Weber, Sarah Weckhuysen, Sanjay M. Sisodiya, Mark J. Daly, Ingo Helbig, Dennis Lal, Johannes R. Lemke

    Published 2018
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  12. 12
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database by Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben‐Zeev, Mercédes Pineda, Nadia Bahi‐Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martínez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djurić, Anne‐Marie Bisgaard, Kirstine Ravn, Vlatka Mejaški Bošnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, V. Yu. Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Published 2019
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  13. 13
    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice by Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael Ghanty, Katrine M. Johannesen, Christina Fenger, Stéphanie Schorge, David Báez-Nieto, Hao‐Ran Wang, Andrew S. Allen, Jen Q. Pan, Holger Lerche, Henrike Heyne, Joseph D. Symonds, Sameer M. Zuberi, Stephan Sanders, Beth Rosen Sheidley, Dana Craiu, Heather E. Olson, Sarah Weckhuysen, Peter M. DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, M. Milh, Bertrand Isidor, Christel Depienne, Annapurna Poduri, Arthur J. Campbell, Jordane Dimidschstein, Rikke S. Møller, Dennis Lal

    Published 2020
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  14. 14
    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial by Marleen M L van Arnhem, Bart van den Munckhof, Alexis Arzimanoglou, Emilio Perucca, Liisa Metsähonkala, Guido Rubboli, Marianne Søndergaard Khinchi, Anne de Saint Martin, Kerstin Alexandra Klotz, Julia Jacobs, J. Helen Cross, Irene Morales, Wim Otte, Heleen C. van Teeseling, Frans S.S. Leijten, Kees P. J. Braun, Floor E. Jansen, Anna Jansen, Lieven Lagae, Thomas Bast, Sarah von Spiczak, Gerhard Kluger, Patrick Van Bogaert, Eija Gaily, Sarah Baer, Stéphane Auvin, Richard Chin, Sameer M. Zuberi, Petia Dimova, C Dana Craiu, Pierangelo Veggiotti, Georgia Ramantani

    Published 2023
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  15. 15
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy by Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joël Fluss, Julitta de Bellescize, Julia Scholly, Rikke S. Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti‐Hirsch, Caroline Schluth–Bolard, Frédérique Sloan‐Béna, Katherine L. Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E. Scheffer, Sha Tang, Candace T. Myers, Hannah Stamberger, Gemma L. Carvill, Deepali N. Shinde, Heather C. Mefford, Elena Neagu, Robert Huether, Hsiao‐Mei Lu, Alice Dica, Julie S. Cohen, Catrinel Iliescu, Cristina Pomeran, James L. Rubenstein, Ingo Helbig, Damien Sanlaville, Édouard Hirsch, Pierre Szepetowski

    Published 2016
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  16. 16
    A clinical diagnostic algorithm for early onset cerebellar ataxia

    A clinical diagnostic algorithm for early onset cerebellar ataxia by Rick Brandsma, Corien C. Verschuuren‐Bemelmans, Dina Amrom, Nina Barišić, Peter Baxter, Enrico Bertini, Lubov Blumkin, Vesna Branković-Srećković, Oebele F. Brouwer, Katrin Bürk, Coriene E. Catsman‐Berrevoets, Dana Craiu, I.F.M. de Coo, J. Gburek, C Kennedy, Tom J. de Koning, H.P.H. Kremer, Ram Kumar, Alfons Macaya, Alessia Micalizzi, Marisol Mirabelli-Badenier, Andrea H. Németh, Sara Nuovo, Bwee Tien Poll‐The, Tally Lerman‐Sagie, Maja Steinlin, Matthis Synofzik, Marina A.J. Tijssen, Gessica Vasco, Michèl A.A.P. Willemsen, Ginevra Zanni, Enza Maria Valente, Eugen Boltshauser, Deborah A. Sival

    Published 2019
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  17. 17
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly by Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara

    Published 2014
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  18. 18
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    Published 2020
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  19. 19
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy by Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    Published 2015
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  20. 20
    Phenotypic spectrum of <i>GABRA1</i>

    Phenotypic spectrum of <i>GABRA1</i> by Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic

    Published 2016
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