Epileptic spasms in tuberous sclerosis complex
Hsieh, David T, Jennesson, Melanie M, Thiele, Elizabeth A
Published in Epilepsy research (01.09.2013)
Published in Epilepsy research (01.09.2013)
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Posterior glucose hypometabolism in Lafora disease: Early and late FDG‐PET assessment
Jennesson, Melanie, Milh, Mathieu, Villeneuve, Nathalie, Guedj, Eric, Marie, Pierre‐Yves, Vignal, Jean‐Pierre, Raffo, Emmanuel, Vespignani, Hervé, Mancini, Josette, Maillard, Louis
Published in Epilepsia (Copenhagen) (01.04.2010)
Published in Epilepsia (Copenhagen) (01.04.2010)
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Journal Article
Brain and spinal manifestations of Miller-Dieker syndrome
Hsieh, David T, Jennesson, Melanie M, Thiele, Elizabeth A, Caruso, Paul A, Masiakos, Peter T, Duhaime, Ann-Christine
Published in Neurology. Clinical practice (01.02.2013)
Published in Neurology. Clinical practice (01.02.2013)
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Journal Article
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
Yang, Fang, Begemann, Anais, Reichhart, Nadine, Haeckel, Akvile, Steindl, Katharina, Schellenberger, Eyk, Sturm, Ronja Fini, Barth, Magalie, Bassani, Sissy, Boonsawat, Paranchai, Courtin, Thomas, Delobel, Bruno, Gunning, Boudewijn, Hardies, Katia, Jennesson, Mélanie, Legoff, Louis, Linnankivi, Tarja, Prouteau, Clément, Smal, Noor, Spodenkiewicz, Marta, Toelle, Sandra P., Van Gassen, Koen, Van Paesschen, Wim, Verbeek, Nienke, Ziegler, Alban, Zweier, Markus, Horn, Anselm H.C., Sticht, Heinrich, Lerche, Holger, Weckhuysen, Sarah, Strauß, Olaf, Rauch, Anita
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Journal Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, Meyer, Pierre, Genevieve, David, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Guët, Agnès, Scalais, Emmanuel, Dorison, Nathalie, Myers, Candace T., Mefford, Heather C., Howell, Katherine B., Marini, Carla, Freeman, Jeremy L., Nica, Anca, Terrone, Gaetano, Sekhara, Tayeb, Lebre, Anne‐Sophie, Odent, Sylvie, Sadleir, Lynette G., Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Bar, Claire, Breuillard, Delphine, Kuchenbuch, Mathieu, Jennesson, Mélanie, Le Guyader, Gwenaël, Isnard, Hervé, Rolland, Anne, Doummar, Diane, Fluss, Joel, Afenjar, Alexandra, Berquin, Patrick, De Saint Martin, Anne, Dupont, Sophie, Goldenberg, Alice, Lederer, Damien, Lesca, Gaétan, Maurey, Hélène, Meyer, Pierre, Mignot, Cyril, Nica, Anca, Odent, Sylvie, Poisson, Alice, Scalais, Emmanuel, Sekhara, Tayeb, Vrielynck, Pascal, Barcia, Giulia, Nabbout, Rima
Published in Epilepsy & behavior (01.01.2022)
Published in Epilepsy & behavior (01.01.2022)
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Journal Article
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins
Salian, Smrithi, Scala, Marcello, Nguyen, Thi Tuyet Mai, Severino, Mariasavina, Accogli, Andrea, Amadori, Elisabetta, Torella, Annalaura, Pinelli, Michele, Hudson, Beth, Boothe, Megan, Hurst, Anna, Ben‐Omran, Tawfeg, Larsen, Martin J., Fagerberg, Christina R., Sperling, Lene, Miceikaite, Ieva, Herissant, Lucas, Doco‐Fenzy, Martine, Jennesson, Mélanie, Nigro, Vincenzo, Striano, Pasquale, Minetti, Carlo, Sachdev, Rani K., Palmer, Emma Elizabeth, Capra, Valeria, Campeau, Philippe M.
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Journal Article
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R
Published in Brain (London, England : 1878) (01.01.2019)
Published in Brain (London, England : 1878) (01.01.2019)
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Journal Article
Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents
Larson, Anna M., Ryther, Robin C.C., Jennesson, Melanie, Geffrey, Alexandra L., Bruno, Patricia L., Anagnos, Christina J., Shoeb, Ali H., Thibert, Ronald L., Thiele, Elizabeth A.
Published in Epilepsia (Copenhagen) (01.07.2012)
Published in Epilepsia (Copenhagen) (01.07.2012)
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Journal Article
Clobazam therapy of refractory epilepsy in tuberous sclerosis complex
Jennesson, Melanie, van Eeghen, Agnies M, Caruso, Paul A, Paolini, Jan L, Thiele, Elizabeth A
Published in Epilepsy research (01.05.2013)
Published in Epilepsy research (01.05.2013)
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Journal Article
Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q)
Arkilo, Dimitrios, Devinsky, Orrin, Mudigoudar, Basanagoud, Boronat, Susana, Jennesson, Melanie, Sassower, Kenneth, Vaou, Okeanis Eleni, Lerner, Jason T, Jeste, Shafali Spurling, Luchsinger, Kadi, Thibert, Ronald
Published in Epilepsy & behavior (01.04.2016)
Published in Epilepsy & behavior (01.04.2016)
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Journal Article
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle-Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M, Baulac, Stéphanie
Published in Annals of neurology (01.01.2022)
Published in Annals of neurology (01.01.2022)
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