Abstract
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 NaV1.7, SCN10A, the gene encoding sodium channel NaV1.8, and SCN11A, the gene encoding sodium channel NaV1.9, 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.
| Original language | English |
|---|---|
| Pages (from-to) | 1152-1160 |
| Number of pages | 9 |
| Journal | The Lancet Neurology |
| Volume | 13 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 1 2014 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Sodium channel genes in pain-related disorders : Phenotype-genotype associations and recommendations for clinical use. / Waxman, Stephen G.; Merkies, Ingemar S J; Gerrits, Monique M.; Dib-Hajj, Sulayman D.; Lauria, Giuseppe; Cox, James J.; Wood, John N.; Woods, C. Geoffrey; Drenth, Joost P H; Faber, Catharina G.
In: The Lancet Neurology, Vol. 13, No. 11, 01.11.2014, p. 1152-1160.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Sodium channel genes in pain-related disorders
T2 - Phenotype-genotype associations and recommendations for clinical use
AU - Waxman, Stephen G.
AU - Merkies, Ingemar S J
AU - Gerrits, Monique M.
AU - Dib-Hajj, Sulayman D.
AU - Lauria, Giuseppe
AU - Cox, James J.
AU - Wood, John N.
AU - Woods, C. Geoffrey
AU - Drenth, Joost P H
AU - Faber, Catharina G.
PY - 2014/11/1
Y1 - 2014/11/1
N2 - 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 NaV1.7, SCN10A, the gene encoding sodium channel NaV1.8, and SCN11A, the gene encoding sodium channel NaV1.9, 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.
AB - 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 NaV1.7, SCN10A, the gene encoding sodium channel NaV1.8, and SCN11A, the gene encoding sodium channel NaV1.9, 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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UR - http://www.scopus.com/inward/citedby.url?scp=84907992197&partnerID=8YFLogxK
U2 - 10.1016/S1474-4422(14)70150-4
DO - 10.1016/S1474-4422(14)70150-4
M3 - Article
VL - 13
SP - 1152
EP - 1160
JO - The Lancet Neurology
JF - The Lancet Neurology
SN - 1474-4422
IS - 11
ER -