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Kv7.2 loss-of-function causes early hyperexcitability and network remodelling
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DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment
I.J.J. Muffels, K.A. Kantautas, G. MacDonald, K. Garapati, R.R. Pasupuleti, R.J. Tinker, R. Shah, M.A. Thevandavakkam, J. Donnelly, R. Hrstka, D. Smith, J. Van Klinken, F. Vaz, A. Pandey, E.O. Perlstein, T. Kozicz, E. Morava