Electrophysiological signatures of a developmental delay in a stem cell model of KCNQ2 developmental and epileptic encephalopathy
Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C. Mendis, Stefanie Klingenstein, Stefan Liebau, Sarah Weckhuysen, Michael Alber, Steven Petrou, Holger Lerche, Snezana Maljevic, Thomas V. Wuttke
This study investigates the developmental impact of KCNQ2 loss-of-function variants in patient iPSC-derived neurons, showing reduced M-currents and disrupted oscillatory activity linked to developmental delay and seizures.
Neurobiology of Disease · Sep 24, 2025Peer-reviewedNeuroscience