Associated Papers
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
39286500 (PubMed )
Supplement: mmc1.pdf
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.
Doisne N et al.
Human Mutation, 2020
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.
Kubota T et al.
Brain Communications, 2020
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Kokunai Y et al.
Scientific Reports, 2018
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