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Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies
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Brain | June 29, 2017 | Volume: 140 | Issue: 9 | Pages: 2337-2354
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, Markus , Johannesen, Katrine M. , Hedrich, Ulrike B. S. , Masnada, Silvia , Rubboli, Guido , Gardella, Elena , Lesca, Gaëtan , Ville, Dorothée , Milh, Mathieu , Villard, Laurent , Afenjar, Alexandra , Chantot‐Bastaraud, Sandra , Mignot, Cyril , Lardennois, Caroline, Nava, Caroline , Schwarz, Niklas , Gérard, Marion , Perrin, Laurence, Doummar, Diane , Miranda, María J., Hempel, Maja , Brilstra, Eva H. , Knoers, Nine, Verbeek, Nienke E., Kempen, Marjan van, Braun, Kees P. J. , Mancini, Grazia M.S. , Biskup, Saskia, Hörtnagel, Konstanze , Döcker, Miriam, Bast, Thomas , Loddenkemper, Tobias , Baumeister, Friedrich, Fazeli, Walid , Striano, Pasquale, Dilena, Robertino , Fontana, Elena , Zara, Federico , Kurlemann, Gerhard, Klepper, Joerg , Thoene, Jess G. , Arndt, Daniel H. , Deconinck, Nicolas , Schmitt‐Mechelke, Thomas , Muhle, Hiltrud, Wical, Beverly, Finetti, C., Brückner, Reinhard , Pietz, Joachim, Golla, G., Jillella, Dinesh , Linnet, Karen Markussen, Charles, Perrine , Moog, Ute , Õiglane‐Shlik, Eve, Mantovani, John F., Park, Kristen , Deprez, Marie, Lederer, Damien , Mary, Sandrine, Scalais, Emmanuel , Selim, Laila , Coster, Rudy Van , Lagae, Lieven , Nikanorova, Marina , Hjalgrim, Helle , Korenke, Georg-Christoph , Trivisano, Marina , Specchio, Nicola , Ceulemans, Berten , Dorn, Thomas, Helbig, Katherine L. , Hardies, Katia, Stamberger, Hannah , Jonghe, Peter De, Weckhuysen, Sarah , Kluger, Gerhard , Møller, Rikke S. , Wong-Kisiel, Lily, Auvin, Stéphane , Kempen, Marjan J. A. van, Wong‐Kisiel, Lily C. , Maier, Oliver , Lemke, Johannes R. , Krägeloh‐Mann, Ingeborg , Helbig, Ingo , Lerche, Holger , Loddenkemper, Tobias , Villard, Laurent , Rubboli, Guido , Schwarz, Niklas , Specchio, Nicola , Gardella, Elena , Lesca, Gaetan , Møller, Rikke S , Jillella, Dinesh V
Brain | February 23, 2017 | Volume: 140 | Issue: 5 | Pages: 1316-1336