The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Mari KurokawaMichiko TorioKazuhiro OhkuboVlad TocanNoriko OhyamaNaoko TodaKanako IshiiKei NishiyamaYuichi MushimotoRyuichi SakamotoMaki NakazaRiho HorieTomoya KubotaMasanori P TakahashiYasunari SakaiMasatoshi NomuraShouichi Ohga

Published in: Molecular genetics & genomic medicine (2020)

Our data indicate that the p.V876E mutation in CACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP.

Keyphrases

early onset
late onset
electronic health record
machine learning
sleep quality
data analysis
physical activity
deep learning