Have had it for the last 15 years undiagnosed but recently, genetic testing that had been 'lost' has now been analysed 10 years later and picked up a gene mutation (SCN4A c.2015G>A p.Arg672His ...

This condition is frequently linked to mutations in the SCN4A gene, encoding a skeletal muscle sodium channel. Traditional management strategies, such as potassium avoidance, low-potassium diets, and ...

With the help of Leichliter, and through genetic testing, Csupak, who paid for it out of pocket, was diagnosed with the SCN4A mutated gene in 2017. When he heard the diagnosis, he said he was ...

Voltage-gated sodium channels are essential for excitability of skeletal muscle fibres and neurons. An increasing number of disabling or fatal paediatric neurological disorders linked to mutations of ...

1. Muscle Channelopathies Reference Center, Service of Neuromyology, University Hospital Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris (APHP), Institut national de la santé et de la ...

Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by ...

Skeletal muscle sodium channelopathies are caused by mutations in the SCN4A gene that impairs the ability of skeletal muscles to contract or relax. 1 The characteristic clinical features of autosomal ...

Paralysis refers to temporary or permanent loss of voluntary muscle movement in a body part or region. People can experience localized, generalized, partial, or complete paralysis. Share on ...

Gamstorp disease is the result of a mutation, or alteration, in a gene called SCN4A. This gene helps produce sodium channels, or microscopic openings through which sodium moves through your cells.