SCN8A 中的功能获得性突变 Met136Val 可能不是三叉神经痛的常见病因。
Gain-of-function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia.
机构信息
Department of Neurosurgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
出版信息
Mol Genet Genomic Med. 2021 Feb;9(2):e1587. doi: 10.1002/mgg3.1587. Epub 2021 Jan 11.
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.
背景
SCN8A 中的 Met136Val 突变在一例三叉神经痛病例中被描述，但未提供受影响个体中的频率。
方法
对 123 名被诊断为典型三叉神经痛的个体进行 SCN8A 的直接测序，旨在检测 Met136Val 变化。
结果
在所研究的经典三叉神经痛病例中，均未发现 SCN8A 中的 Met136Val 突变。
结论
SCN8A 中的 Met136Val 突变不是经典三叉神经痛的常见原因。
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