Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case Jacqueline.

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Presentation transcript:

Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case Jacqueline Neubauer, PhD, Jean-Sébastien Rougier, PhD, Hugues Abriel, MD, PhD, Cordula Haas, PhD HeartRhythm Case Reports Volume 4, Issue 5, Pages 187-190 (May 2018) DOI: 10.1016/j.hrcr.2018.01.010 Copyright © 2018 Heart Rhythm Society Terms and Conditions

Figure 1 Sanger sequencing confirmation of SCN1B c.673C>T, p.R225C. HeartRhythm Case Reports 2018 4, 187-190DOI: (10.1016/j.hrcr.2018.01.010) Copyright © 2018 Heart Rhythm Society Terms and Conditions

Figure 2 Electrophysiological characteristics of SCN1B. A: Representative traces of sodium current with Nav1.5 alone, β1 subunit WT, β1B subunit WT, and β1B subunit p.R225C in HEK293 cells. B: Sodium current density for Nav1.5 alone, β1 subunit WT, β1B subunit WT, and β1B subunit p.R225C. C: Voltage dependence of steady-state activation for Nav1.5 alone, β1 subunit WT, β1B subunit WT, and β1B subunit p.R225C. D: Voltage dependence of steady-state inactivation for Nav1.5 alone, β1 subunit WT, β1B subunit WT, and β1B subunit p.R225C. In B, C, and D data points represent mean ± standard error of the mean. ∗P < .05 and ∗∗P < .01, based on a paired 2-tailed Student t test. HeartRhythm Case Reports 2018 4, 187-190DOI: (10.1016/j.hrcr.2018.01.010) Copyright © 2018 Heart Rhythm Society Terms and Conditions