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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy
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Science Translational Medicine | September 2, 2021 | Volume: 13 | Issue: 609 | Pages: No page available
4-Aminopyridine is a potential therapeutic option for a subgroup of patients with KCNA2 -encephalopathy and gain-of-function variants.
Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies
Masnada, Silvia , Gardella, Elena , Schubert, Julian , Kaiwar, Charu , Klee, Eric W. , Lanpher, Brendan C. , Gavrilova, Ralitza H. , Synofzik, Matthis , Bast, Thomas , Gorman, Kathleen M. , King, Mary D. , Allen, Nicholas M. , Conroy, Judith, Zeev, Bruria Ben , Tzadok, Michal , Korff, Christian , Dubois, Fanny, Ramsey, Keri , Serratosa, José M. , Giráldez, Beatriz G. , Bergqvist, Christina A , Binelli, Adrian , Zaeyen, Eduardo José Bernardo, Wolff, Markus , Marjanović, Dragan , Çağlayan, Hande, Pena, Sérgio D.J. , Balestrini, Simona , Syrbe, Steffen , Møller, Rikke S. , Rubboli, Guido , Hedrich, Ulrike B. S. , Narayanan, Vinodh , Helbig, Ingo , Marsh, Eric D. , O'Brien, Margaret M. , Porter, Brenda E. , Horovitz, Dafne Dain Gandelman , Arslan, Mutluay , Sisodiya, Sanjay , Veggiotti, Pierangelo , Lemke, Johannes R. , Lerche, Holger , Serratosa, José M , Gorman, Kathleen M , Rubboli, Guido , Synofzik, Matthis , Balestrini, Simona , Gardella, Elena , Møller, Rikke S
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