Gain-of-function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia

Raymond F Sekula; Kathleen Deeley; Hayley Denwood; Alexandre R Vieira

doi:10.1002/mgg3.1587

Gain-of-function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia

Mol Genet Genomic Med. 2021 Feb;9(2):e1587. doi: 10.1002/mgg3.1587. Epub 2021 Jan 11.

Authors

Raymond F Sekula¹, Kathleen Deeley², Hayley Denwood¹, Alexandre R Vieira²

Affiliations

¹ Department of Neurosurgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
² Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

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.

Publication types

Letter

MeSH terms

Female
Gain of Function Mutation*
Humans
Male
Middle Aged
NAV1.6 Voltage-Gated Sodium Channel / genetics*
Trigeminal Neuralgia / genetics*
Trigeminal Neuralgia / pathology

Substances

NAV1.6 Voltage-Gated Sodium Channel
SCN8A protein, human