Skeletal muscle channelopathy

Gene: SCN4A

PMID: 26700687 - Zaharieva et al 2016 - Through whole exome sequencing, they identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected individuals showed in utero- or neonatal-onset muscle weakness. In 7 cases, death occurred during the third trimester or shortly after birth due to severe muscle weakness. In the other 4 cases there was congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities.

Created: 17 Mar 2021, 1:55 p.m. | Last Modified: 17 Mar 2021, 1:55 p.m.

Panel Version: 1.21

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:57 p.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dominant: Hyperkalemic periodic paralysis (170500); Hypokalemic periodic paralysis, type 2 (613345); Paramyotonia congenita (168300). Recessive: Congenital myopathy.

Publications

• Miller et al 2004 Neurology 9, 1647-55 PMID: 15534250. Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Matthews et al 2008 Neurology 70, 50-3 PMID: 18166706. Zaharieva et al 2016 Brain 139, 674-91 PMID: 26700687

Variants in this GENE are reported as part of current diagnostic practice