Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.

Maki ShibanoTomoya KubotaNorito KokubunYosuke MiyajiHiroko KurikiYuzuru ItoHaruka HamanoueMasanori P Takahashi

Published in: Muscle & nerve (2022)

A cumulative effect of variants with small functional alterations may be considered as the underpinning oligogenic pathogenic mechanisms for the unusual phenotype of periodic paralysis.

Keyphrases

copy number
gene expression