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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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927360/
https://ncbi.nlm.nih.gov/pubmed/32042906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000373
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