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Painful and painless channelopathies.
Bennett DL, Woods CG. Bennett DL, et al. Lancet Neurol. 2014 Jun;13(6):587-99. doi: 10.1016/S1474-4422(14)70024-9. Epub 2014 May 6. Lancet Neurol. 2014. PMID: 24813307 Review.
For example, the voltage-gated sodium ion channel Nav1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, result in congenital insensitivity to pain, whereas gain-of-function mutat …
For example, the voltage-gated sodium ion channel Nav1.7 is expressed selectively in sensory and autonomic neurons; inactivating mutations i …
Understanding the genetic basis of congenital insensitivity to pain.
Drissi I, Woods WA, Woods CG. Drissi I, et al. Br Med Bull. 2020 May 15;133(1):65-78. doi: 10.1093/bmb/ldaa003. Br Med Bull. 2020. PMID: 32219415 Free PMC article. Review.
INTRODUCTION OR BACKGROUND: Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. ...SCN9A/Nav1.7 is an analgesic target. SCN11A/Nav1.9 is unlikely to be an analgesic target.There are further Mendelian c …
INTRODUCTION OR BACKGROUND: Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic …
Novel SCN9A variant associated with congenital insensitivity to pain.
Yammine T, Aprahamian R, Souaid M, Salem N, Awwad J, Farra C. Yammine T, et al. Mol Biol Rep. 2023 Jul;50(7):6293-6298. doi: 10.1007/s11033-023-08507-0. Epub 2023 May 25. Mol Biol Rep. 2023. PMID: 37231219
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack of pain perception and a wide spectrum of clinical signs such as anosmia and hyposmia. ...METHODS AND RESULTS: Whole exome sequencing analys …
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack …
Clinical features and functional analysis of novel SCN9A variants causing congenital insensitivity to pain.
Sparber P, Zernov N, Markova T, Sharkova I, Nikishina I, Matkava V, Konovalov F, Sviridov P, Zabnenkova V, Ryzhkova O, Shchagina O, Tabakov V, Skoblov M. Sparber P, et al. Pain. 2025 Oct 1;166(10):e409-e415. doi: 10.1097/j.pain.0000000000003628. Epub 2025 May 9. Pain. 2025. PMID: 40359358
To date, most of the described variants in SCN9A associated with congenital insensitivity to pain are biallelic frameshifting variants, and the extent to which splice-affecting variants contribute to this rare phenotype remains largely unknown. …
To date, most of the described variants in SCN9A associated with congenital insensitivity to pain are bia …
Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.
Goldberg YP, Pimstone SN, Namdari R, Price N, Cohen C, Sherrington RP, Hayden MR. Goldberg YP, et al. Clin Genet. 2012 Oct;82(4):367-73. doi: 10.1111/j.1399-0004.2012.01942.x. Epub 2012 Aug 13. Clin Genet. 2012. PMID: 22845492 Review.
By studying a very rare Mendelian disorder of absent pain perception, congenital indifference to pain, we have defined Nav1.7 (endocded by SCN9A) as a critical and novel target for analgesic development. Strong human validation has emerged with …
By studying a very rare Mendelian disorder of absent pain perception, congenital indifference to pain, we have d …
SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain.
Gutierrez-Quintana R, Christen M, Faller KME, Guevar J, Jagannathan V, Leeb T. Gutierrez-Quintana R, et al. J Vet Intern Med. 2023 Jan;37(1):230-235. doi: 10.1111/jvim.16610. Epub 2023 Jan 11. J Vet Intern Med. 2023. PMID: 36630088 Free PMC article.
BACKGROUND: Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain. ...This report is the first of a spontaneous pathogenic SCN9A vari …
BACKGROUND: Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are …
Congenital indifference to pain: an illustrated case report and literature review.
Golshani AE, Kamdar AA, Spence SC, Beckmann NM. Golshani AE, et al. J Radiol Case Rep. 2014 Aug 31;8(8):16-23. doi: 10.3941/jrcr.v8i8.2194. eCollection 2014 Aug. J Radiol Case Rep. 2014. PMID: 25426241 Free PMC article. Review.
Congenital indifference to pain is a rare and debilitating congenital disease. Individuals with the disorder may have one or a combination of sensory or autonomic deficits, which can range from lack of mechanical nociception, diminished ability to dete …
Congenital indifference to pain is a rare and debilitating congenital disease. Individuals with the disorder may …
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
Emery EC, Habib AM, Cox JJ, Nicholas AK, Gribble FM, Woods CG, Reimann F. Emery EC, et al. J Neurosci. 2015 May 20;35(20):7674-81. doi: 10.1523/JNEUROSCI.3935-14.2015. J Neurosci. 2015. PMID: 25995458 Free PMC article.
In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP). Although well documented, the correlation between SCN9A genotypes and clinical phenotypes is still unclear. Here we report three f …
In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP …
Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function.
Kokotović T, Lenartowicz EM, Langeslag M, Ciotu CI, Fell CW, Scaramuzza A, Fischer MJM, Kress M, Penninger JM, Nagy V. Kokotović T, et al. FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16. FEBS J. 2022. PMID: 35029322 Free PMC article.
We have previously identified dysregulation of MEOX2 in fibroblasts from Congenital Insensitivity to Pain patients, and confirmed that btn, the Drosophila homologue of MEOX2, plays a role in nocifensive responses to noxious heat stimuli. ...Mechanistic …
We have previously identified dysregulation of MEOX2 in fibroblasts from Congenital Insensitivity to Pain patien …
Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.
Marchi M, D'Amato I, Andelic M, Cartelli D, Salvi E, Lombardi R, Gumus E, Lauria G. Marchi M, et al. Pain. 2022 Jul 1;163(7):e882-e887. doi: 10.1097/j.pain.0000000000002535. Epub 2021 Nov 15. Pain. 2022. PMID: 34799533 Free PMC article.
Mutations in the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), encoded by SCN9A gene, play an important role in the regulation of nociception and can lead to a wide range of clinical outcomes, ranging from extreme pain syndromes to congenital inability to exp …
Mutations in the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), encoded by SCN9A gene, play an important role in the reg …
49 results