Advances in next-generation sequencing are improving diagnostic rates and understanding of pathomechanisms in skeletal muscle channelopathies, increasing the potential for targeted treatments.
Next-generation sequencing using gene panels has improved diagnostic rates, identified new mutations, and discovered patients with co-existing pathogenic mutations ('double trouble'). This field has previously focussed on single genes, but we are now beginning to understand interactions between co-existing mutations, genetic modifiers, and their role in pathomechanisms. New genetic observations in pediatric presentations of channelopathies broadens our understanding of the conditions. Genetic and mechanistic advances have increased the potential to develop treatments.
Vivekanandam et al. (2020) studied this question.