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

OBJECTIVE: The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. METHODS: Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected...

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Detalles Bibliográficos
Autores principales: Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L., Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R., Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, Møller, Rikke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927360/
https://www.ncbi.nlm.nih.gov/pubmed/32042906
http://dx.doi.org/10.1212/NXG.0000000000000373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927360/
https://www.ncbi.nlm.nih.gov/pubmed/32042906
http://dx.doi.org/10.1212/NXG.0000000000000373

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