Key result
The SCN1B c.308A>T (p.D103V) variant decreased cardiac NaV1.5 and brain NaV1.1 sodium current densities by 45.7% and 66.9%, respectively, compared to wild-type subunits.
Why the study?
An SCN1B c.308A>T mutation was identified in a patient with proarrhythmic conditions and neurocognitive deficits, but its functional effects on NaV1.5 and NaV1.1 were unknown.
The SCN1B_c.308A>T mutation causes a loss of function in both cardiac (NaV1.5) and brain (NaV1.1) sodium channels, providing a mechanistic basis for concomitant proarrhythmic conditions and structural brain abnormalities.
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Supports SCN1B loss-of-function as shared mechanism for arrhythmia and brain phenotypes; hypothesis-generating for human validation.
Martínez-Moreno et al. (2020) studied Complex concomitant brain and cardiac disorders (n=1). SCN1B c.308A>T (p.D103V) variant vs. Wild-type SCN1B was evaluated on Sodium current density (NaV1.5 and NaV1.1). The SCN1B c.308A>T (p.D103V) variant decreased cardiac NaV1.5 and brain NaV1.1 sodium current densities by 45.7% and 66.9%, respectively, compared to wild-type subunits.
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