Key result
Heterozygous CACNA1S p.V876E mutation linked to early-onset neuromuscular symptoms and unusual hypokalemic periodic paralysis.
Why the study?
Few reports have documented the non-neuromuscular phenotypes of hypokalemic periodic paralysis associated with CACNA1S mutations.
Case Report (n=3)
The p.V876E mutation in CACNA1S is associated with early onset of neuromuscular symptoms and unusual clinical phenotypes in Hypokalemic periodic paralysis.
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May flag metabolic features in HypoPP; leaves open CACNA1S effects on insulin secretion.
Kurokawa et al. (2020) conducted a case report in Hypokalemic periodic paralysis (HypoPP) (n=3). p.V876E mutation in CACNA1S was evaluated on Clinical and genetic characterization. A heterozygous p.V876E mutation in CACNA1S was identified in 3 family members, contributing to early-onset neuromuscular symptoms and unusual clinical phenotypes of hypokalemic periodic paralysis.
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