Article
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Science translational medicine - 1 Sept 2021
Hedrich Ulrike B S, Lauxmann Stephan, Wolff Markus, Synofzik Matthis, Bast Thomas, Binelli Adrian, Serratosa José M, Martínez-Ulloa Pedro, Allen Nicholas M, King Mary D, Gorman Kathleen M, Zeev Bruria Ben, Tzadok Michal, Wong-Kisiel Lily, Marjanovic Dragan, Rubboli Guido, Sisodiya Sanjay M, Lutz Florian, Ashraf Harshad Pannikkaveettil, Torge Kirsten, Yan Pu, Bosselmann Christian, Schwarz Niklas, Fudali Monika, Lerche Holger
Abstract excerpt
Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine approach, we show for KCNA2-encephalopathy that the K+ channel blocker 4-aminopyridine can antagonize gain-of-function defects caused by variants in the KV1.2 subunit in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.