Sökresultat - Elena Gardella

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  1. 1
    Phenotypic and genetic spectrum of <i><scp>SCN</scp>8A</i>‐related disorders, treatment options, and outcomes

    Phenotypic and genetic spectrum of <i><scp>SCN</scp>8A</i>‐related disorders, treatment options, and outcomes av Elena Gardella, Rikke S. Møller

    Publicerad 2019
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  2. 2
    Epilepsy in neurodegenerative diseases

    Epilepsy in neurodegenerative diseases av Sabrina Neri, Giovanni Mastroianni, Elena Gardella, Umberto Aguglia, Guido Rubboli

    Publicerad 2022
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  3. 3
    Duration of epileptic seizure types: A data‐driven approach

    Duration of epileptic seizure types: A data‐driven approach av Pirgit Meritam Larsen, Stephan Wüstenhagen, Daniella Terney, Elena Gardella, Harald Aurlien, Sándor Beniczky

    Publicerad 2022
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  4. 4
    Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep

    Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep av Bigna K. Bölsterli, Elena Gardella, Elena Pavlidis, Flavia M. Wehrle, C. A. Tassinari, Reto Huber, Guido Rubboli

    Publicerad 2017
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  5. 5
    Early mortality in SCN8A -related epilepsies

    Early mortality in SCN8A -related epilepsies av Katrine M. Johannesen, Elena Gardella, Ingrid E. Scheffer, Katherine B. Howell, Douglas M. Smith, Ingo Helbig, Rikke S. Møller, Guido Rubboli

    Publicerad 2018
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  6. 6
    Patients with epilepsy and patients with psychogenic non-epileptic seizures: Video-EEG, clinical and neuropsychological evaluation

    Patients with epilepsy and patients with psychogenic non-epileptic seizures: Video-EEG, clinical and neuropsychological evaluation av Katherine Turner, A. Piazzini, Valentina Chiesa, Valentina Barbieri, Aglaia Vignoli, Elena Gardella, Giuseppe Tisi, Silvio Scarone, Maria Paola Canevini, Orsola Gambini

    Publicerad 2011
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  7. 7
    Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug‐resistance, assessment of risk factors, and usefulness of “new” antiepileptic drugs

    Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug‐resistance, assessment of risk factors, and usefulness of “new” antiepileptic drugs av Isabella Gilioli, Aglaia Vignoli, Elisa Visani, Marina Casazza, Laura Canafoglia, Valentina Chiesa, Elena Gardella, Francesca La Briola, Ferruccio Panzica, G. Avanzini, Maria Paola Canevini, Silvana Franceschetti, S. Binelli

    Publicerad 2012
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  8. 8
    Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia

    Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia av Emilia Ricci, Tomasz Stanislaw Mieszczanek, Monica Zilmer, Katarzyna Cebula, Stefan Juhl, Marina Nikanorova, Katarzyna Maria Mieszczanek, Marianne Søndergaard Khinchi, Britta Inga Ulfsdotter Hesslow, Kristin Sjølie Thygesen, Charlotte R. Pedersen, Kern Olofsson, Stephan Wüstenhagen, Rikke S. Møller, Guido Rubboli, Sándor Beniczky, Elena Gardella

    Publicerad 2025
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  9. 9
    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability

    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability av Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L. Helbig, Christina Engel Hoei‐Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, Katrine M. Johannesen, Gerhard Kurlemann, Elena Gardella, Felicitas Becker, Yvonne G. Weber, Jan Benda, Rikke S. Møller, Holger Lerche

    Publicerad 2018
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  10. 10
    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies av Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce‐Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger‐Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring

    Publicerad 2022
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  11. 11
    GEBR-7b, a novel PDE4D selective inhibitor that improves memory in rodents at non-emetic doses

    GEBR-7b, a novel PDE4D selective inhibitor that improves memory in rodents at non-emetic doses av Olga Bruno, Ernesto Fedele, Jos Prickaerts, Linda A. Parker, Elisa Canepa, Chiara Brullo, Anna Cavallero, Elena Gardella, André Luís Balbi, Cinzia Domenicotti, Eva Bollen, Hieronymus J.M. Gijselaers, Tim Vanmierlo, Katharina Erb, Cheryl L. Limebeer, Francesca Argellati, Umberto M. Marinari, M.A. Pronzato, Roberta Ricciarelli

    Publicerad 2011
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  12. 12
    Automated Interpretation of Clinical Electroencephalograms Using Artificial Intelligence

    Automated Interpretation of Clinical Electroencephalograms Using Artificial Intelligence av Jesper Tveit, Harald Aurlien, Sergey M. Plis, Vince D. Calhoun, William O. Tatum, Donald L. Schomer, Vibeke Arntsen, F. M. Cox, Firas Fahoum, William Gallentine, Elena Gardella, Cecil D. Hahn, Aatif M. Husain, Sudha Kilaru Kessler, Mustafa Aykut Kural, Fábio A. Nascimento, Hatice Tankişi, Line Bédos Ulvin, Richard Wennberg, Sándor Beniczky

    Publicerad 2023
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  13. 13
    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy av Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer, Barbro Stadheim, H. W. C. DAVIS, Charlotte Peinhardt, Mahmoud Koko, Rohini Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago‐Sim, Tue Diemer, Christina Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Møller

    Publicerad 2021
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  14. 14
    Global modified Delphi consensus on diagnosis, phenotypes, and treatment of <scp><i>SCN8A</i>‐related</scp> epilepsy and/or neurodevelopmental disorders

    Global modified Delphi consensus on diagnosis, phenotypes, and treatment of <scp><i>SCN8A</i>‐related</scp> epilepsy and/or neurodevelopmental disorders av Gabrielle Conecker, Maya Xia, JayEtta Hecker, Christelle Moufawad El Achkar, Cristine Mella Cukiert, Seth Devries, Elizabeth Donner, Mark P. Fitzgerald, Elena Gardella, Michael F. Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M. Schreiber, Yi Wang, T. Kooistra, Madeleine J. Oudin, Kayla Waldrop, J. Tyler Youngquist, Dennis Zhang, Elaine Wirrell, Μ. Scott Perry

    Publicerad 2024
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  15. 15
    Global <scp>modified‐Delphi</scp> consensus on comorbidities and prognosis of <i>SCN8A</i><scp>‐related</scp> epilepsy and/or neurodevelopmental disorders

    Global <scp>modified‐Delphi</scp> consensus on comorbidities and prognosis of <i>SCN8A</i><scp>‐related</scp> epilepsy and/or neurodevelopmental disorders av Gabrielle Conecker, Maya Xia, JayEtta Hecker, Christelle Moufawad El Achkar, Cristine Mella Cukiert, Seth Devries, Elizabeth Donner, Mark P. Fitzgerald, Elena Gardella, Michael F. Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M. Schreiber, Yi Wang, T. Kooistra, Madeleine J. Oudin, Kayla Waldrop, J. Tyler Youngquist, Dennis Zhang, Elaine Wirrell, Μ. Scott Perry

    Publicerad 2024
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  16. 16
    Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy

    Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy av Marlene Rong, Paula Marques, Quratulain Zulfiqar Ali, Ricardo Morcos, Ilakkiah Chandran, Farah Qaiser, Rikke S. Møller, Allan Bayat, Guido Rubboli, Elena Gardella, Miriam S. Reuter, Tristan T. Sands, Ingrid E. Scheffer, Amy L. Schneider, Annapurna Poduri, Elaine Wirrell, Rima Nabbout, Joseph Sullivan, Kette D. Valente, Stéphane Auvin, Kelly G. Knupp, Andreas Brunklaus, Ángel Aledo‐Serrano, Danielle M. Andrade

    Publicerad 2025
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  17. 17
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy av Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    Publicerad 2018
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  18. 18
    Sex-specific disease modifiers in juvenile myoclonic epilepsy

    Sex-specific disease modifiers in juvenile myoclonic epilepsy av Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja Kristine Selmer, Pasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zárubová, Mark P. Richardson, Lisa J. Strug, Deb K. Pal

    Publicerad 2022
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  19. 19
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function av Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    Publicerad 2020
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  20. 20
    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies

    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies av Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent R. Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, M. G. Baglietto, Federico Zara, Nicholas Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans A. Dahl, Paul Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh‐Olsen, Leanne M. Dibbens

    Publicerad 2015
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