4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

著者: Ulrike B. S. Hedrich, Stephan Lauxmann, Markus Wolff, Matthis Synofzik, Thomas Bast, Adrian Binelli, José M. Serratosa, Pedro Martínez-Ulloa, Nicholas M. Allen, Mary D. King, Kathleen M. Gorman, Bruria Ben Zeev, Michal Tzadok, Lily C. Wong‐Kisiel, Dragan Marjanović, Guido Rubboli, Sanjay M. Sisodiya, Florian Lutz, Harshad Pannikkaveettil Ashraf, Kirsten Torge, Pu Yan, Christian M. Boßelmann, Niklas Schwarz, Monika Fudali, Holger Lerche - Science Translational Medicine 2021 被引用: 83

-(gain-of-function)–encephalopathy and provide an online tool assisting physicians to select patients with gain-of-function mutations suited to this treatment.