Citations 2
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy
Hedrich, Ulrike B. S. , Lauxmann, Stephan , Wolff, Markus , Synofzik, Matthis , Bast, Thomas , Binelli, Adrian , Martínez-Ulloa, Pedro, Allen, Nicholas M. , King, Mary D. , Gorman, Kathleen M. , Zeev, Bruria Ben , Tzadok, Michal , Marjanović, Dragan , Lutz, Florian , Ashraf, Harshad Pannikkaveettil , Torge, Kirsten, Yan, Pu , Boßelmann, Christian M. , Schwarz, Niklas , Fudali, Monika , Serratosa, José M , Gorman, Kathleen M , Zeev, Bruria Ben , Wong-Kisiel, Lily C. , Marjanovic, Dragan , Rubboli, Guido , Lutz, Florian , Ashraf, Harshad Pannikkaveettil , Bosselmann, Christian , Schwarz, Niklas , Fudali, Monika , Lerche, Holger , Synofzik, Matthis , Serratosa, José M. , Martínez-Ulloa, Pedro, Wong‐Kisiel, Lily C. , Rubboli, Guido , Sisodiya, Sanjay , Yan, Pu
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