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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 on theme: "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."— Presentation transcript:

1 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 (May 2018) DOI: /j.hrcr Copyright © 2018 Heart Rhythm Society Terms and Conditions

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

3 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, DOI: ( /j.hrcr ) Copyright © 2018 Heart Rhythm Society Terms and Conditions

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