Author/Authors :
Edizadeh, Masoud University of Social Welfare and Rehabilitation Sciences, Tehran , Vazehan, Raheleh , Javadi, Fatemeh University of Social Welfare and Rehabilitation Sciences, Tehran , Dehdahsi, Shima University of Social Welfare and Rehabilitation Sciences, Tehran , Fadaee, Mahsa , Faraji Zonooz, Mehrshid , Parsimehr, Elham , Ahangari, Fatemeh , Abolhassani, Ayda , Kalhor, Zahra , Fattahi, Zohreh University of Social Welfare and Rehabilitation Sciences, Tehran , Beheshtian, Maryam University of Social Welfare and Rehabilitation Sciences, Tehran , Kariminejad, Ariana , Akbari, Mohammad Reza Dalla Lana School of Public Health - University of Toronto - Toronto - Ontario, Canada , Najmabadi, Hossein University of Social Welfare and Rehabilitation Sciences, Tehran , Nafissi, Shahriar Department of Neurology - Tehran University of Medical Sciences, Tehran
Abstract :
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease. Next-generation sequencing (NGS) using a panel targeting metabolic myopathy and myotonia genes identified a de novo heterozygous pathogenic variant c.3724A>G, p.Arg1242Gly, in exon 30 of CACNA1S. As the second report of this variant, this case may broaden the CACNA1S-related disease spectrum to include normokalemic periodic paralysis.
