An SCN1B Variant Affects Both Cardiac-Type (Na_V1.5) and Brain-Type (Na_V1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

ABSTRACT: Voltage-gated sodium (Na_V) channels are transmembrane proteins that initiate and propagate neuronal and cardiac action potentials. Na_V channel β subunits have been widely studied due to their modulatory role. Mice null for Scn1b, which encodes Na_V β1 and β1b subunits, have defects in neuronal development and excitability, spontaneous generalized seizures, cardiac arrhythmias, and early mortality. A mutation in exon 3 of SCN1B, c.308A>T leading to β1_p.D103V and β1b_p.D103V, was previously found in a patient with a history of proarrhythmic conditions with progressive atrial standstill as well as cognitive and motor deficits accompanying structural brain abnormalities. We investigated whether β1 or β1b subunits carrying this mutation affect Na

SUBMITTER: Martinez-Moreno R 

PROVIDER: S-EPMC7550680 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature