期刊
LANCET NEUROLOGY
卷 13, 期 11, 页码 1152-1160出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/S1474-4422(14)70150-4
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资金
- VA [868841, 5I01BX000605-02, 549940, 5I01BX000605-07] Funding Source: Federal RePORTER
- Medical Research Council [MR/J012742/1, G1100340, G0901905] Funding Source: researchfish
- Versus Arthritis [20200] Funding Source: researchfish
- Wellcome Trust [101054/Z/13/Z] Funding Source: researchfish
- MRC [MR/J012742/1, G0901905, G1100340] Funding Source: UKRI
- Arthritis Research UK [20200] Funding Source: Medline
- Medical Research Council [G0901905, G1100340, MR/J012742/1] Funding Source: Medline
- Versus Arthritis [20200] Funding Source: Medline
- Wellcome Trust [100140, 101054] Funding Source: Medline
- BLRD VA [I01 BX000605] Funding Source: Medline
Human studies have firmly implicated voltage-gated sodium channels in human pain disorders, and targeted and massively parallel genomic sequencing is beginning to be used in clinical practice to determine which sodium channel variants are involved. Missense substitutions of SCN9A, the gene encoding sodium channel Na(v)1.7, SCN10A, the gene encoding sodium channel Na(v)1.8, and SCN11A, the gene encoding sodium channel Na(v)1.9, produce gain-of-function changes that contribute to pain in many human painful disorders. Genomic sequencing might help to establish a diagnosis, and in the future might support individualisation of therapeutic approaches. However, in many cases, and especially in sodium channelopathies, the results from genomic sequencing can only be appropriately interpreted in the context of an extensive functional assessment, or family segregation analysis of phenotype and genotype.
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