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Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R. Thor MG, et al. Among authors: kullmann dm. Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0. Sci Rep. 2019. PMID: 31772215 Free PMC article.
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Rajakulendran S, et al. Among authors: kullmann dm. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007.01.010. Neurotherapeutics. 2007. PMID: 17395136 Free article. Review.
301 results