Associated Papers
Small fiber neuropathy: expanding diagnosis with unsettled etiology.
Devigili G et al.
Current Opinion in Neurology, 2025
GLI3 in Archaic Humans: Possible Contributions to Human Skeletal and Brain Evolution.
Nomura T et al.
Development, Growth & Differentiation, 2025
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Neanderthal introgression in SCN9A impacts mechanical pain sensitivity.
Faux P et al.
Communications Biology, 2023
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Marchi M et al.
Pain, 2023
Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.
Andelic M et al.
Brain : a Journal of Neurology, 2023
Novel SCN9A variant associated with congenital insensitivity to pain.
Yammine T et al.
Molecular Biology Reports, 2023
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Almomani R et al.
International Journal of Molecular Sciences, 2023
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
Dong X et al.
American Journal of Medical Genetics. Part A, 2022
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
The effect of sodium channels on neurological/neuronal disorders: A systematic review.
Bagheri S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.
Toffano AA et al.
Scientific Reports, 2020
A Neanderthal Sodium Channel Increases Pain Sensitivity in Present-Day Humans.
Zeberg H et al.
Current Biology : Cb, 2020
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.
Labau JIR et al.
Brain : a Journal of Neurology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients.
Sun J et al.
Medicine, 2017
[Pain and analgesia : Mutations of voltage-gated sodium channels].
Eberhardt MJ et al.
Schmerz (berlin, Germany), 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.
Li QS et al.
The Clinical Journal of Pain, 2015
Painful peripheral neuropathy and sodium channel mutations.
Hoeijmakers JG et al.
Neuroscience Letters, 2015
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.
Lampert A et al.
Handbook of Experimental Pharmacology, 2014
Congenital insensitivity to pain: a case report and review of the literature.
Peddareddygari LR et al.
Case Reports in Neurological Medicine, 2014
[Association between mutations of SCN9A gene and pain related to Parkinsonism].
Zhang LM et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
The Na(V)1.7 sodium channel: from molecule to man.
Dib-Hajj SD et al.
Nature Reviews. Neuroscience, 2013
Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.
Persson AK et al.
Annals of Neurology, 2013
Genetic aspects of sodium channelopathy in small fiber neuropathy.
Hoeijmakers JG et al.
Clinical Genetics, 2012
Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.
Hoeijmakers JG et al.
Nature Reviews. Neurology, 2012
Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.
Yuan R et al.
Pain Medicine (malden, Mass.), 2011
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005