Lucknow: Abhishek, 25, a lawyer, died suddenly on Monday afternoon while walking to court with a colleague. He reportedly felt dizzy, stumbled, hit hi.

Conclusions: This is the first report of an unconventional intronic splice site mutation in the SCN5A gene leading to cardiac sodium channelopathy. We speculate that its phenotypical diversity might ...

Myotonia is a common clinical manifestation of the skeletal muscle ion channelopathy, which is usually classified into DM and NDM (MC, PMC, SCM). NDM is usually accompanied by muscle stiffness and ...