ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks - Teunissen, Maria W A; Lewerissa, Elly; van Hugte, Eline J H; Wang, Shan; Ockeloen, Charlotte W; Koolen, David A; Pfundt, Rolph; Marcelis, Carlo L M; Brilstra, Eva; Howe, Jennifer L; Scherer, Stephen W; Le Guillou, Xavier; et al. (Human molecular genetics, 2023)
Keywords: Ankyrins - genetics; Ankyrins - metabolism; Axon Initial Segment - metabolism; Epilepsy - genetics; Epilepsy - metabolism; Genetics; Human genetics; Human health and pathology; Humans; Induced Pluripotent Stem Cells; Life Sciences; Neurons - metabolism; Neurons and Cognition; Original