Gain‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia. Issue 2 (11th January 2021)

• Record Type: Journal Article
• Authors: Sekula, Raymond F.; Deeley, Kathleen; Denwood, Hayley; Vieira, Alexandre R.
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 2(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-01-11
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1587
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: The Met136Val mutation in SCN8A was described in a case of trigeminal neuralgia but no frequency among affected individuals was provided. Methods: Direct sequencing of 123 individuals diagnosed with classic trigeminal neuralgia was performed aimed to detect the Met136Val change. Results: No cases of classical trigeminal neuralgia studied had the Met136Val mutation in SCN8A . Conclusion: Met136Val mutation in SCN8A is not a frequent cause of classical trigeminal neuralgia. Abstract : This paper provides evidence that the SCN8A Met136Val is not a common cause of trigeminal neuralgia.