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 3 publications

(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%

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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%

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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Somesthésie et nociception

Cambier,

Masson,

Masson-Boivin

et al. 2024

Neurologie

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Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences

Szczupak,

Wierzchowska,

Cimoszko-Zauliczna

et al. 2024

Front. Neurol.

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IntroductionPain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.Material, methods and aimThis manuscript presents the case of a 9-year-old boy with paroxysmal extreme pain syndrome and provides a review of the literature. Additionally, a genealogical analysis of the boy’s family was conducted to determine the total number of affected family members. The clinical data included an analysis of genetic tests to identify the mutation confirming PEPD.Result and conclusionA mutation in the SCN9A gene causes the disease, and due to the small number of patients worldwide (around 500, according to literature reports), an effective method of preventing extreme pain attacks had not been established at the time of writing this manuscript. Based on information from scientific sources and the authors’ experiences, it can be firmly stated that various, often difficult-to-identify factors cause paroxysmal extreme pain. This syndrome necessitates further research and the exploration of effective treatment methods.

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

Abstract: Infant paroxysmal extreme pain disorder M Bjeloševic ˇet al.

Cited by 3 publications

References 7 publications

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

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

Somesthésie et nociception

Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences

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