Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
[Genetic analysis of a child with Congenital insensitivity to pain due to compound heterozygous variants of SCN9A gene].
Tan X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
Novel SCN9A variant associated with congenital insensitivity to pain.
Yammine T et al.
Molecular Biology Reports, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
Rubinstein M et al.
Molecular Psychiatry, 2018
A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.
Mansouri M et al.
Pediatric Neurology, 2014
Congenital insensitivity to pain: a case report and review of the literature.
Peddareddygari LR et al.
Case Reports in Neurological Medicine, 2014
Pain perception is altered by a nucleotide polymorphism in SCN9A.
Reimann F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
Catterall WA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
Drenth JP et al.
The Journal of Clinical Investigation, 2007
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP et al.
Clinical Genetics, 2007