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“A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.”, Sci Rep, vol. 8, no. 1, p. 16681, 2018.
, “A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.”, Neurology, vol. 86, no. 2, pp. 161-9, 2016.
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