Paroxysmal extreme pain disorder: A very rare genetic aetiology of syncope with bizarre flushing in an infant

Bjeloševič, Marko; Kušíková, Katarína; Tomko, Jaroslav; Illíková, Viera

doi:10.1111/jpc.15072

Cited by 1 publication

(2 citation statements)

References 7 publications

(29 reference statements)

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“…Flushing (warmth), skin redness, and severe pain attacks in different parts of the body represent the characteristic manifestation of paroxysmal extreme pain disorder. 42 The pain site is associated with the flushing that is found manifested with infants. 42 Pain attacks can last for hours in some cases, but in this consideration, the pain episode usually lasts for a few seconds to a few minutes.…”

Section: Paroxysmal Extreme Pain Disordermentioning

confidence: 99%

See 1 more Smart Citation

A Review of the Therapeutic Targeting of SCN9A and Nav1.7 for Pain Relief in Current Human Clinical Trials

Dormer¹,

Narayanan²,

Schentag³

et al. 2023

JPR

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Introduction There is a great need to find alternative treatments for chronic pain which have become a healthcare problem. We discuss current therapeutic targeting Nav1.7. Areas Covered Nav1.7 is a sodium ion channel protein that is associated with several human pain genetic syndromes. It has been found that mutations associated with Nav1.7 lead to the loss of the ability to perceive pain in individuals that are otherwise normal. Several therapeutic interventions are presently undergoing preclinical and research using the methodology of damping Nav1.7 expressions as a methodology to decrease the sensation of pain leading to analgesia. Expert Opinion It is our strong belief that there is a viable future in the targeting of protein of Nav1.7 for the relief of chronic pain in humans. The review will look at the genomics associated with SCN1A and proteomic of Nav1.7 as a foundation to explain the mechanism of the therapeutic interventions targeting Nav1.7, the human disease that are associated with Nav1.7, and the current development of treatment for chronic pain whether in preclinical or clinical trials targeting Nav1.7 expressions. The development of therapeutic antagonists targeting Nav1.7 could be a viable alternative to the current treatments which have led to the opioid crisis. Therefore, Nav1.7 targeted treatment has a major clinical significance that will have positive consequences as it relates to chronic pain interventions.

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Section: Paroxysmal Extreme Pain Disordermentioning

confidence: 99%

“… 42 The pain site is associated with the flushing that is found manifested with infants. 42 Pain attacks can last for hours in some cases, but in this consideration, the pain episode usually lasts for a few seconds to a few minutes. 16 Pain attacks can occur during infancy.…”

Section: Paroxysmal Extreme Pain Disordermentioning

confidence: 99%