Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C, Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A, Helbig, Katherine L, Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
Published in Brain (London, England : 1878) (01.09.2016)
Published in Brain (London, England : 1878) (01.09.2016)
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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, Leguern, Eric
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel
Published in Nature communications (03.09.2024)
Published in Nature communications (03.09.2024)
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Journal Article
Novel Variants of SOX4 in Patients with Intellectual Disability
Grosse, Martin, Kuechler, Alma, Dabir, Tabib, Spranger, Stephanie, Beck-Wödl, Stefanie, Bertrand, Miriam, Haack, Tobias B, Grasemann, Corinna, Manka, Eva, Depienne, Christel, Kaiser, Frank J
Published in International journal of molecular sciences (09.02.2023)
Published in International journal of molecular sciences (09.02.2023)
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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof
Published in Lancet neurology (01.07.2013)
Published in Lancet neurology (01.07.2013)
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Mutations in the netrin-1 gene cause congenital mirror movements
Méneret, Aurélie, Franz, Elizabeth A, Trouillard, Oriane, Oliver, Thomas C, Zagar, Yvrick, Robertson, Stephen P, Welniarz, Quentin, Gardner, R J MacKinlay, Gallea, Cécile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L, Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie-Pierre, Guérois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A, Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, Markie, David
Published in The Journal of clinical investigation (01.11.2017)
Published in The Journal of clinical investigation (01.11.2017)
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Journal Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
Published in Translational psychiatry (04.05.2020)
Published in Translational psychiatry (04.05.2020)
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Journal Article
Evidence of mosaicism in SPAST variant carriers in four French families
Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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Journal Article
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Chiu, Celine, Küchler, Alma, Depienne, Christel, Preuße, Corinna, Marina, Adela Della, Reis, Andre, Kaiser, Frank J, Nolte, Kay, Hentschel, Andreas, Schara-Schmidt, Ulrike, Kölbel, Heike, Roos, Andreas
Published in Skeletal muscle (18.07.2024)
Published in Skeletal muscle (18.07.2024)
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Journal Article
STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients
Mignot, Cyril, Moutard, Marie‐Laure, Trouillard, Oriane, Gourfinkel‐An, Isabelle, Jacquette, Aurélia, Arveiler, Benoit, Morice‐Picard, Fanny, Lacombe, Didier, Chiron, Catherine, Ville, Dorothée, Charles, Perrine, LeGuern, Eric, Depienne, Christel, Héron, Delphine
Published in Epilepsia (Copenhagen) (01.10.2011)
Published in Epilepsia (Copenhagen) (01.10.2011)
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Journal Article
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer
Published in Human molecular genetics (15.04.2015)
Published in Human molecular genetics (15.04.2015)
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Journal Article
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
Depienne, Christel, Moreno-De-Luca, Daniel, Heron, Delphine, Bouteiller, Delphine, Gennetier, Aurélie, Delorme, Richard, Chaste, Pauline, Siffroi, Jean-Pierre, Chantot-Bastaraud, Sandra, Benyahia, Baya, Trouillard, Oriane, Nygren, Gudrun, Kopp, Svenny, Johansson, Maria, Rastam, Maria, Burglen, Lydie, Leguern, Eric, Verloes, Alain, Leboyer, Marion, Brice, Alexis, Gillberg, Christopher, Betancur, Catalina
Published in Biological psychiatry (1969) (15.08.2009)
Published in Biological psychiatry (1969) (15.08.2009)
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Journal Article
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Published in Epilepsia open (01.06.2023)
Published in Epilepsia open (01.06.2023)
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Journal Article
Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons
Escobar-Khondiker, Myriam, Hollerhage, Matthias, Muriel, Marie-Paule, Champy, Pierre, Bach, Antoine, Depienne, Christel, Respondek, Gesine, Yamada, Elizabeth S, Lannuzel, Annie, Yagi, Takao, Hirsch, Etienne C, Oertel, Wolfgang H, Jacob, Ralf, Michel, Patrick P, Ruberg, Merle, Hoglinger, Gunter U
Published in The Journal of neuroscience (18.07.2007)
Published in The Journal of neuroscience (18.07.2007)
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Journal Article
RAD51 deficiency disrupts the corticospinal lateralization of motor control
GALLEA, Cécile, POPA, Traian, ALEXANDRE, Nicolas, DELMAIRE, Christine, MENERET, Aurélie, DEPIENNE, Christel, POUPON, Cyril, HERTZ-PANNIER, Lucie, CINCOTTA, Massimo, VIDAILHET, Marie, LEHERICY, Stéphane, MEUNIER, Sabine, HUBSCH, Cécile, ROZE, Emmanuel, VALABREGUE, Romain, BROCHARD, Vanessa, KUNDU, Prantik, SCHMITT, Benoît, BARDINET, Eric, BERTASI, Eric, FLAMAND-ROZE, Constance
Published in Brain (London, England : 1878) (01.11.2013)
Published in Brain (London, England : 1878) (01.11.2013)
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