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Autor:
Da Zhao, Paulo Pinares-Garcia, Chaseley E. McKenzie, Lauren E. Bleakley, Ian C. Forster, Vickie H.Y. Wong, Christine T.O. Nguyen, Ingrid E. Scheffer, Christopher A. Reid, Bang V. Bui
Publikováno v:
The Journal of Neuroscience. 43:2199-2209
Pathogenic variants inHCN1are associated with a range of epilepsy syndromes including a developmental and epileptic encephalopathy. The recurrentde novo HCN1pathogenic variant (M305L) results in a cation leak, allowing the flux of excitatory ions at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53837a2b3deed37fe094ec0f9157b2b3
https://doi.org/10.1523/jneurosci.1615-22.2022
https://doi.org/10.1523/jneurosci.1615-22.2022
