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. 2024 Apr 30;11(3):725–734. doi: 10.3233/JND-230134

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© 2024 – The authors. Published by IOS Press

This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 1 — (A) Family pedigree: patient I-2 and his father (grey symbols) are possible cases, based on the information provided. (B) Left panel. The mutation p.T592I identified in the affected patients is shown in the secondary structure of human Nav1.4. The position has been established using NextProt (https://www.nextprot.org/entry/NX_P35499/sequence). Right panel. The T592I mutation is shown in light green in the 3D plot of hNav1.4. The principal α subunit (green) of hNav1.4 and the auxiliary β1 subunit (orange) were obtained from RCSB Protein Data Bank (https://www.rcsb.org/).