ArticleNature reviews. Neurology2011
Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.
Article in Nature reviews. Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene - Case report and own experiences.Frontiers in neurology · 2024Pooled it
- Pain That Challenges Survival: A NovelReports (MDPI) · 2026Article
- Understanding neuropathic pain: the role of neurophysiological tests in unveiling underlying mechanisms.Journal of anesthesia, analgesia and critical care · 2024Review
- A Review of the Therapeutic Targeting of SCN9A and Nav1.7 for Pain Relief in Current Human Clinical Trials.Journal of pain research · 2023Review
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.BMC medical genomics · 2022Article
- Familial Episodic Pain Syndromes.Journal of pain research · 2022Review
- Inhibition of Nav1.7 channel by a novel blocker QLS-81 for alleviation of neuropathic pain.Acta pharmacologica Sinica · 2021Article
- Hydropathicity-based prediction of pain-causing NaV1.7 variants.BMC bioinformatics · 2021Article
- Inhibition of the Nav1.7 Channel in the Trigeminal Ganglion Relieves Pulpitis Inflammatory Pain.Frontiers in pharmacology · 2021Article
- Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.Scientific reports · 2020Article
- Upregulation of Nav1.7 by endogenous hydrogen sulfide contributes to maintenance of neuropathic pain.International journal of molecular medicine · 2020Article
- Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.Pflugers Archiv : European journal of physiology · 2020Review
- Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.BMC neurology · 2020Article
- Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Sodium channels and pain: from toxins to therapies.British journal of pharmacology · 2018Review
- Modulation of sodium channels as pharmacological tool for pain therapy-highlights and gaps.Naunyn-Schmiedeberg's archives of pharmacology · 2018Review
- Enhancing inactivation rather than reducing activation of Nav1.7 channels by a clinically effective analgesic CNV1014802.Acta pharmacologica Sinica · 2018Article
- Article
- Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.Protein & cell · 2017Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgrounda 3-month-old male infant presented, beginning on the second day of life, with paroxysmal painful events that started with tonic contraction of the whole body followed by erythematous harlequin-type color changes. INVESTIGATIONS: screening of the SCN9A gene, which encodes the voltage-gated sodium channel Na(V)1.7, identified a new mutation, Gly1607Arg, located within the domain IV S4 voltage sensor. Whole-cell patch-clamp analysis demonstrated functional effects of the mutant channel that included impaired inactivation-a hallmark of paroxysmal extreme pain disorder (PEPD). DIAGNOSIS: the patient was diagnosed as having PEPD, an autosomal dominant disorder characterized by severe rectal pain triggered by defecation or perineal stimulation, usually followed by ocular or submaxillary pain. Erythematous flushing, sometimes in a harlequin pattern, can be a prominent feature of this condition. MANAGEMENT: treatment with carbamazepine (10 mg/kg/day) for approximately 3 months was ineffective in this case, and the parents made a decision to discontinue the drug. The mother was instructed to avoid painful stimuli that could trigger an episode.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.