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.
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Teunissen MWA, et al. Among authors: lewerissa e.
Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081.
Hum Mol Genet. 2023.
PMID: 37195288
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