4-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i> -encephalopathy
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
Abstract
-(gain-of-function)–encephalopathy and provide an online tool assisting physicians to select patients with gain-of-function mutations suited to this treatment.
Topics & Concepts
4-AminopyridineMedicineEncephalopathyAtaxiaEpilepsyDravet syndromeAlertnessInternal medicineAnesthesiaPediatricsPharmacologyPsychiatryPotassium channelEpilepsy research and treatmentGenetics and Neurodevelopmental DisordersIon channel regulation and function