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Page 1
Human pain channelopathies.
Comini M, Themistocleous AC, Bennett DLH. Comini M, et al. Handb Clin Neurol. 2024;203:89-109. doi: 10.1016/B978-0-323-90820-7.00004-5. Handb Clin Neurol. 2024. PMID: 39174256 Review.
Loss of function mutations in Na(V)1.7 result in congenital inability to experience pain while gain-of-function mutations can cause a number of distinct neuropathic pain disorders, including erythromelalgia, paroxysmal extreme pain disorder, and small- …
Loss of function mutations in Na(V)1.7 result in congenital inability to experience pain while gain-of-function mutations can cause a number …
Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents.
Kriegeskorte S, Bott R, Hampl M, Korngreen A, Hausmann R, Lampert A. Kriegeskorte S, et al. J Gen Physiol. 2023 Sep 4;155(9):e202213312. doi: 10.1085/jgp.202213312. Epub 2023 Aug 2. J Gen Physiol. 2023. PMID: 37531097 Free PMC article.
Mutations in the genes encoding Navs can lead to severe inherited diseases, and some of these so-called channelopathies show temperature-sensitive phenotypes, for example, paramyotonia congenita, Brugada syndrome, febrile seizure syndromes, and inherited pain syndromes like eryth …
Mutations in the genes encoding Navs can lead to severe inherited diseases, and some of these so-called channelopathies show temperature-sen …
Genetic aspects of pain and its variability in the human population.
Świtała WW, Szymańska-Adamcewicz O, Jurga S, Pilchowska-Ujma E, Krakowiak J. Świtała WW, et al. Ann Agric Environ Med. 2021 Dec 29;28(4):569-574. doi: 10.26444/aaem/134151. Epub 2021 Mar 31. Ann Agric Environ Med. 2021. PMID: 34969212 Free article.
Clinical syndromes of derangement of pain sensation are generally caused by single gene mutations (e.g. erythromelalgia and paroxysmal extreme pain disorder caused by mutations of SCN9A), but can also be associated with multiple gene mutations, as happ …
Clinical syndromes of derangement of pain sensation are generally caused by single gene mutations (e.g. erythromelalgia and paroxysmal …
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H. Yuan JH, et al. J Peripher Nerv Syst. 2023 Dec;28(4):597-607. doi: 10.1111/jns.12590. Epub 2023 Aug 18. J Peripher Nerv Syst. 2023. PMID: 37555797
BACKGROUND AND AIMS: Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of t …
BACKGROUND AND AIMS: Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropath …
Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.
Stępień A, Sałacińska D, Staszewski J, Durka-Kęsy M, Dobrogowski J. Stępień A, et al. BMC Neurol. 2020 May 13;20(1):182. doi: 10.1186/s12883-020-01770-9. BMC Neurol. 2020. PMID: 32404070 Free PMC article.
CASE PRESENTATION: Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were …
CASE PRESENTATION: Twenty two individuals from this family with paroxysmal extreme pain disorder were identified …
Pain triangle phenomenon in possible association with SCN9A: A case report.
Sopacua M, Hoeijmakers JGJ, van der Kooi AJ, Merkies ISJ, Faber CG. Sopacua M, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2026. doi: 10.1002/mgg3.2026. Epub 2022 Sep 16. Mol Genet Genomic Med. 2022. PMID: 36114697 Free PMC article.
Sodium channel Na(v) 1.7, encoded by the SCN9A-gene, has been of special interest in the last decades because missense gain-of-function mutations have been linked to a spectrum of neuropathic pain conditions, including inherited erythermalgia (IEM), paroxysmal extreme …
Sodium channel Na(v) 1.7, encoded by the SCN9A-gene, has been of special interest in the last decades because missense gain-of-function muta …
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.
Hua Y, Cui D, Han L, Xu L, Mao S, Yang C, Gao F, Yuan Z. Hua Y, et al. BMC Med Genomics. 2022 Jul 15;15(1):159. doi: 10.1186/s12920-022-01302-z. BMC Med Genomics. 2022. PMID: 35840956 Free PMC article.
BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. ...
BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characteriz …
Uncoupling sodium channel dimers restores the phenotype of a pain-linked Nav 1.7 channel mutation.
Rühlmann AH, Körner J, Hausmann R, Bebrivenski N, Neuhof C, Detro-Dassen S, Hautvast P, Benasolo CA, Meents J, Machtens JP, Schmalzing G, Lampert A. Rühlmann AH, et al. Br J Pharmacol. 2020 Oct;177(19):4481-4496. doi: 10.1111/bph.15196. Epub 2020 Aug 24. Br J Pharmacol. 2020. PMID: 32663327 Free PMC article.
The hNa(v) 1.7/A1632E channel mutant causes symptoms of erythromelalgia and paroxysmal extreme pain disorder (PEPD), and its main gating change is a strongly enhanced persistent current. ...
The hNa(v) 1.7/A1632E channel mutant causes symptoms of erythromelalgia and paroxysmal extreme pain disorder (PE …