Genomes and Genes


Sophie Nicole


Country: France


  1. Kokunai Y, Dalle C, Vicart S, Sternberg D, Pouliot V, Bendahhou S, et al. A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs. Sci Rep. 2018;8:16681 pubmed publisher
    ..4 and the hypokalemic episodes of paralysis from loss-of-function effects strengthened by low K+. Our data argue for a non-negligible role of Nav1.4 loss-of-function in familial hypoPP. ..
  2. Bauché S, O Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, et al. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016;99:753-761 pubmed publisher
    ..This work broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse. ..