Vedovato, Natascia http://orcid.org/0000-0003-4462-5865
Salguero, Maria V. http://orcid.org/0000-0002-7267-6603
Greeley, Siri Atma W. http://orcid.org/0000-0002-0741-3567
Yu, Christine H. http://orcid.org/0000-0002-1317-5825
Philipson, Louis H. http://orcid.org/0000-0002-2208-3607
Ashcroft, Frances M. http://orcid.org/0000-0002-6970-1767
Funding for this research was provided by:
Biotechnology and Biological Sciences Research Council (BB/R002517/1, BB/R017220/1)
Medical Research Council (MR/T002107/1)
Foundation for the National Institutes of Health (CTSA UL1 TR000430, DRTC P30DK020595, K23DK094866, R01DK104942)
Clinical Therapeutics Training Grant (T32GM00719)
Kovler Family Foundation
Article History
Received: 25 September 2023
Accepted: 28 November 2023
First Online: 17 February 2024
Acknowledgements
: We thank the patient for her participation.
: The datasets generated during the current study are available from the corresponding author.
: NV and FMA are supported by UKRI | Biotechnology and Biological Sciences Research Council (BBSRC) (BB/R002517/1 and BB/R017220/1). FMA is also supported by the Medical Research Council (MRC) (MR/T002107/1). This work was also supported by the US National Institutes of Health R01DK104942 (LHP/SAWG), NIH DRTC P30DK020595, NIH K23DK094866 (SAWG), NIH CTSA UL1 TR000430 (REDCap support), and gifts from the Kovler Family Foundation. MVS is supported by Clinical Therapeutics Training Grant (T32GM007019).
: The authors declare that there are no relationships or activities that might bias, or be perceived to bias, their work.
: NV, FMA and LHP designed the study. LHP, CHY, SAWG and MVS identified the mutation and collected and analysed the genetic and clinical data. NV collected and analysed the patch-clamp, two-electrode voltage-clamp and western blot data. FMA, NV, LHP, SAWG and MVS wrote the manuscript. All authors critically revised the paper and approved the final version. FMA is the guarantor of the electrophysiological studies, and LHP is the guarantor of the genetic studies.