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 ...

Department of Physiology, Dongguk University College of Medicine, 123 Dongdae-ro, Gyeongju 38066, Republic of Korea Channelopathy Research Center (CRC), Dongguk University College of Medicine, 32 ...

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 ...

The authors hypothesised that MMN was an axonopathy without demyelination and that the CB was an antibody-mediated channelopathy focused at the nodes of Ranvier. These two disparate findings, one of ...

Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA Correspondence to Dr M J Ackerman, Long QT Syndrome Clinic and the Mayo Clinic Windland Smith ...

Critical illness polyneuropathy (CIP) and critical illness myopathy (CIM) are major complications that occur in severely ill patients who require intensive care treatment. CIP and CIM affect the ...

1 Department of Physiology, Shandong Provincial Key Laboratory of Pathogenesis and Prevention of Neurological Disorders and State Key Disciplines: Physiology, Medical College of Qingdao University, ...

2 Department of Haematology, The Lysosomal Storage Diseases Unit, University College London, London, UK Correspondence to Dr Perry Elliott, The Heart Hospital, 16–18 Westmoreland Street, London W1G ...

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK 2 Lysholm Department of Neuroradiology, National Hospital for ...

1 Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand 2 Cardiac Inherited Disease Group, Auckland Hospital, Grafton, Auckland, New Zealand 3 Department of Molecular ...