KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Autor: An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra

Publikováno v: Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermoto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a5f969c528f80b314ded91f30e0ad4
https://pubmed.ncbi.nlm.nih.gov/36285205

Differential regulation of NMDA receptor-expressing neurons in the rat hippocampus and striatum following bilateral vestibular loss demonstrated using flow cytometry

Autor: Maryline Guillamin, Bruno Philoxene, Stephane Besnard, Joseph Toulouse, Anne Le Gall, Marie-Laure Machado, Paul F. Smith, Martin Hitier, Brigitte Sola, Alice Benoit

Publikováno v: Neuroscience Letters
Neuroscience Letters, Elsevier, 2018, 683, pp.43-47. ⟨10.1016/j.neulet.2018.06.035⟩

International audience; There is substantial evidence that loss of vestibular function impairs spatial learning and memory related to hippocampal (HPC) function, as well as increasing evidence that striatal (Str) plasticity is also implicated. Since

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40cfd48fdb6d8dd001fc29534aa8a6c7
https://doi.org/10.1016/j.neulet.2018.06.035

The critical role of vestibular graviception during cognitive-motor development

Autor: Joseph Toulouse, Pascal Hilber, Bruno Philoxene, Christophe Chesneau, A. Le Gall, Jan Bulla, Paul F. Smith, Marie-Laure Machado, S. Besnard

Publikováno v: Behavioural Brain Research
Behavioural Brain Research, Elsevier, 2019, 372, pp.112040. ⟨10.1016/j.bbr.2019.112040⟩

International audience; Earth's gravity acts both as a mechanical stimulus on the body and as a sensory stimulus to the vestibular organ, which is transmitted into the brain. The vestibular system has been recently highlighted as the cornerstone of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cd33a95c972f86652257fc7e175309
https://hal-normandie-univ.archives-ouvertes.fr/hal-02355849/file/S0166432819306382.pdf

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Autor: Gareth Baynam, Christian Roth, Joseph Toulouse, Guido Rubboli, Karin Geleijns, Jonas Denecke, Robert Janowski, Dylan Gration, Diana Mitter, Alfred Peter Born, Dierk Niessing, Anne-Lise Poulat, Kimberly Nugent, Cathryn Poulton, Renzo Guerrini, Ghayda M. Mirzaa, Nicolas Chatron, Scott D. McLean, Eva H. Brilstra, H. Hjalgrim, Annalisa Vetro, Dorothée Ville, Rami Abou Jamra, Lauren Dreyer, Francesco Brancati, Katrine M Johannesen, Petra Muschke, Maja Hempel, Rikke S. Møller, Katherine L. Helbig, Gaetan Lesca, Anja Finck, Andrea Dieckmann, Tatjana Bierhals, E. Gardella, Andreas Merkenschlager, Solveig Schulz, Johannes R. Lemke

Publikováno v: Neurol. Genet. 5:e373 (2019)
Johannesen, K M, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, A-L, Ville, D M, Chatron, N, Brilstra, E, Geleijns, K, Born, A P, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, K L, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, J R, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G & Møller, R S 2019, ' Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy ', Neurology: Genetics, vol. 5, no. 6, pp. e373 . https://doi.org/10.1212/NXG.0000000000000373

ObjectiveThe study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy.MethodsThrough diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba057633471541e000792c0a2ee415a
http://hdl.handle.net/11697/143227

Real-life use of videos in pediatric epilepsy consultations

Autor: Marie-Thérèse Abi Warde, Hélène Maurey, Louis Dufour, Nicole Chemaly, Marie Vermelle, Adeline Trauffler, Caroline Hachon Le Camus, Blandine Dozières-Puyravel, Stéphane Auvin, Maximillien Perivier, Joseph Toulouse, Mathieu Milh, Jérémie Lefranc, Marc Gibaud, Claude Cances

Publikováno v: Epilepsy & Behavior. 114:107636

Paroxysmal events are usually not directly observed by physicians. The diagnosis remains challenging and relies mostly on the description of witnesses. The effectiveness of videos for seizure diagnosis has been validated by several studies, but their

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cea0f230cda807282b8e0d4ff3e9cee
https://doi.org/10.1016/j.yebeh.2020.107636