Veronika M Berghold Mahmoud Koko Riccardo Berutti Barbara Plecko
10.3389/fped.2022.944784
Front Pediatr
2022 Aug 26;10:944784.
nav14 voltage-gated sodium channel complex i deficiency genetic testing ion channel gene defect ion channels loss of function (lof) sodium channel paralogs whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36090556/
Case Reports
PMC9462513
36090556
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
2022