A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

PLoS Genet · 2020 · PMC7176149 · PMID 32176688

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highly significantno p-value reported

This significant increase in current amplitude was accompanied by a modest, but highly significant reduction of current inactivation.

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