UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing

Vivekanandam, Vinojini; Jaibaji, Rawan; Sud, Richa; Ellmers, Rebecca; Skorupinska, Iwona; Germaine, Louise; James, Natalie; ... Hanna, Michael G; + view all (2023) Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing. Neuromuscular Disorders , 33 (3) pp. 270-273. 10.1016/j.nmd.2023.01.007. Green open access

[thumbnail of Article]
Preview
Text (Article)
Vivekanandam_prevalence study final revision clean.pdf - Accepted Version

Download (142kB) | Preview
[thumbnail of Table 1]
Preview
Text (Table 1)
Vivekanandam_Table 1.pdf - Accepted Version

Download (75kB) | Preview
[thumbnail of Table 2]
Preview
Text (Table 2)
Vivekanandam_Table 2.pdf - Accepted Version

Download (92kB) | Preview
[thumbnail of Table 3]
Preview
Text (Table 3)
Vivekanandam_Table 3.pdf - Accepted Version

Download (109kB) | Preview

Abstract

We provide an up-to-date and accurate minimum point prevalence of genetically defined skeletal muscle channelopathies which is important for understanding the population impact, planning for treatment needs and future clinical trials. Skeletal muscle channelopathies include myotonia congenita (MC), sodium channel myotonia (SCM), paramyotonia congenita (PMC), hyperkalemic periodic paralysis (hyperPP), hypokalemic periodic paralysis (hypoPP) and Andersen- Tawil Syndrome (ATS). Patients referred to the UK national referral centre for skeletal muscle channelopathies and living in UK were included to calculate the minimum point prevalence using the latest data from the Office for National Statistics population estimate. We calculated a minimum point prevalence of all skeletal muscle channelopathies of 1.99/100 000 (95% CI 1.981-1.999). The minimum point prevalence of MC due to CLCN1 variants is 1.13/100 000 (95% CI 1.123-1.137), SCN4A variants which encode for PMC and SCM is 0.35/100 000 (95% CI 0.346 - 0.354) and for periodic paralysis (HyperPP and HypoPP) 0.41/100 000 (95% CI 0.406-0.414). The minimum point prevalence for ATS is 0.1/100 000 (95% CI 0.098-0.102). There has been an overall increase in point prevalence in skeletal muscle channelopathies compared to previous reports, with the biggest increase found to be in MC. This can be attributed to next generation sequencing and advances in clinical, electrophysiological and genetic characterisation of skeletal muscle channelopathies.

Type: Article
Title: Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2023.01.007
Publisher version: https://doi.org/10.1016/j.nmd.2023.01.007
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Andersen Tawil syndrome, Channelopathy, Muscle channelopathy, Myotonia congenita, Periodic paralysis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10166763
Downloads since deposit
49Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item