Associated Papers
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
Wilke MVMB et al.
American Journal of Medical Genetics. Part A, 2026
Correction of sodium channel mutations in sensory neurons reverses aberrant properties.
Shim J et al.
Brain : a Journal of Neurology, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.
Greco V et al.
Medicina (kaunas, Lithuania), 2025
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.
Åkerlund M et al.
Pain, 2025
Early mortality in STXBP1-related disorders.
Furia F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.
Skystad Kvernebo M et al.
Acta Dermato-venereologica, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
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
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.
Waheed S et al.
Plos One, 2024
Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
Wimalasena NK et al.
Experimental Neurology, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The Human SCN9A R185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice.
Xue Y et al.
Frontiers in Molecular Neuroscience, 2022
Two independent mouse lines carrying the Nav1.7 I228M gain-of-function variant display dorsal root ganglion neuron hyperexcitability but a minimal pain phenotype.
Chen L et al.
Pain, 2021
Hydropathicity-based prediction of pain-causing NaV1.7 variants.
Xenakis MN et al.
Bmc Bioinformatics, 2021
Trigeminal Neuralgia TRPM8 Mutation: Enhanced Activation, Basal [Ca2+]i and Menthol Response.
Gualdani R et al.
Neurology. Genetics, 2021
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.
Toffano AA et al.
Scientific Reports, 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
The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.
Lee SI et al.
Journal of Neurophysiology, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Defining the Functional Role of NaV1.7 in Human Nociception.
McDermott LA et al.
Neuron, 2019
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Small-fiber neuropathy: Expanding the clinical pain universe.
Sopacua M et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.
Eijkenboom I et al.
Experimental Neurology, 2019
Mutation in Nav 1.7 causes high olfactory sensitivity.
Haehner A et al.
European Journal of Pain (london, England), 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
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
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
Kapetis D et al.
Bmc Systems Biology, 2017
[Pain and analgesia : Mutations of voltage-gated sodium channels].
Eberhardt MJ et al.
Schmerz (berlin, Germany), 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy.
Persson AK et al.
Trends in Molecular Medicine, 2016
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
McDonnell A et al.
Brain : a Journal of Neurology, 2016
Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.
Mäki-Marttunen T et al.
Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 2016
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.
Cannon A et al.
Case Reports in Neurological Medicine, 2016
A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.
Rolyan H et al.
Molecular Pain, 2016
Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7.
Namer B et al.
Pain, 2015
Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation.
Estacion M et al.
Journal of Neurophysiology, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.
Ylikallio E et al.
Bba Clinical, 2015
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Z et al.
Scandinavian Journal of Pain, 2014
Voltage-gated sodium channel mutations and painful neuropathy: Na(v)1.9 joins the family.
Bennett DL
Brain : a Journal of Neurology, 2014