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Paroxysmal extreme pain disorder

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https://www.readbyqxmd.com/read/27525141/advanced-genetic-testing-comes-to-the-pain-clinic-to-make-a-diagnosis-of-paroxysmal-extreme-pain-disorder
#1
Ashley Cannon, Svetlana Kurklinsky, Kimberly J Guthrie, Douglas L Riegert-Johnson
UNLABELLED: Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. CASE REPORT: Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27402262/-pain-and-analgesia-mutations-of-voltage-gated-sodium-channels
#2
M J Eberhardt, A Leffler
Voltage-gated sodium channels (Navs) are crucial for the generation and propagation of action potentials in all excitable cells, and therefore for the function of sensory neurons as well. Preclinical research over the past 20 years identified three Nav-isoforms in sensory neurons, namely Nav1.7, Nav1.8 and Nav1.9. A specific role for the function of nociceptive neurons was postulated for each. Whereas no selective sodium channel inhibitors have been established in the clinic so far, the relevance of all three isoforms regarding the pain sensitivity in humans is currently undergoing a remarkable verification through the translation of preclinical data into clinically manifest pictures...
July 11, 2016: Der Schmerz
https://www.readbyqxmd.com/read/27174182/sodium-channel-slow-inactivation-interferes-with-open-channel-block
#3
Martin Hampl, Esther Eberhardt, Andrias O O'Reilly, Angelika Lampert
Mutations in the voltage-gated sodium channel Nav1.7 are linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). PEPD mutations impair Nav1.7 fast inactivation and increase persistent currents. PEPD mutations also increase resurgent currents, which involve the voltage-dependent release of an open channel blocker. In contrast, IEM mutations, whenever tested, leave resurgent currents unchanged. Accordingly, the IEM deletion mutation L955 (ΔL955) fails to produce resurgent currents despite enhanced persistent currents, which have hitherto been considered a prerequisite for resurgent currents...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26861708/kinetic-analysis-of-membrane-potential-dye-response-to-nav1-7-channel-activation-identifies-antagonists-with-pharmacological-selectivity-against-nav1-5
#4
Michael Finley, Jason Cassaday, Tony Kreamer, Xinnian Li, Kelli Solly, Greg O'Donnell, Michelle Clements, Antonella Converso, Sean Cook, Chris Daley, Richard Kraus, Ming-Tain Lai, Mark Layton, Wei Lemaire, Donnette Staas, Jixin Wang
The NaV1.7 voltage-gated sodium channel is a highly valued target for the treatment of neuropathic pain due to its expression in pain-sensing neurons and human genetic mutations in the gene encoding NaV1.7, resulting in either loss-of-function (e.g., congenital analgesia) or gain-of-function (e.g., paroxysmal extreme pain disorder) pain phenotypes. We exploited existing technologies in a novel manner to identify selective antagonists of NaV1.7. A full-deck high-throughput screen was developed for both NaV1...
June 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/26486037/bilateral-congenital-corneal-anesthesia-in-a-patient-with-scn9a-mutation-confirmed-primary-erythromelalgia-and-paroxysmal-extreme-pain-disorder
#5
David Ta Kim, Elsa Rossignol, Kinda Najem, Luis H Ospina
The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
October 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/26059255/what-are-the-treatment-options-for-paroxysmal-extreme-pain-disorder
#6
Marc R Suter
No abstract text is available yet for this article.
2015: Pain Management
https://www.readbyqxmd.com/read/26035178/regulation-of-nav1-7-a-conserved-scn9a-natural-antisense-transcript-expressed-in-dorsal-root-ganglia
#7
Jennifer Koenig, Robert Werdehausen, John E Linley, Abdella M Habib, Jeffrey Vernon, Stephane Lolignier, Niels Eijkelkamp, Jing Zhao, Andrei L Okorokov, C Geoffrey Woods, John N Wood, James J Cox
The Nav1.7 voltage-gated sodium channel, encoded by SCN9A, is critical for human pain perception yet the transcriptional and post-transcriptional mechanisms that regulate this gene are still incompletely understood. Here, we describe a novel natural antisense transcript (NAT) for SCN9A that is conserved in humans and mice. The NAT has a similar tissue expression pattern to the sense gene and is alternatively spliced within dorsal root ganglia. The human and mouse NATs exist in cis with the sense gene in a tail-to-tail orientation and both share sequences that are complementary to the terminal exon of SCN9A/Scn9a...
2015: PloS One
https://www.readbyqxmd.com/read/25995458/novel-scn9a-mutations-underlying-extreme-pain-phenotypes-unexpected-electrophysiological-and-clinical-phenotype-correlations
#8
Edward C Emery, Abdella M Habib, James J Cox, Adeline K Nicholas, Fiona M Gribble, C Geoffrey Woods, Frank Reimann
The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation. Gain-of-function mutations are typically pain-causing and have been associated with inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). IEM is usually caused by enhanced NaV1.7 channel activation, whereas mutations that alter steady-state fast inactivation often lead to PEPD. In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP)...
May 20, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/25957174/sodium-channel-nav1-7-in-vascular-myocytes-endothelium-and-innervating-axons-in-human-skin
#9
Frank L Rice, Phillip J Albrecht, James P Wymer, Joel A Black, Ingemar Sj Merkies, Catharina G Faber, Stephen G Waxman
BACKGROUND: The skin is a morphologically complex organ that serves multiple complementary functions, including an important role in thermoregulation, which is mediated by a rich vasculature that is innervated by sympathetic and sensory endings. Two autosomal dominant disorders characterized by episodes of severe pain, inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD) have been directly linked to mutations that enhance the function of sodium channel Nav1.7. Pain attacks are accompanied by reddening of the skin in both disorders...
2015: Molecular Pain
https://www.readbyqxmd.com/read/25903274/short-lasting-unilateral-neuralgiform-headache-attacks-with-ispilateral-facial-flushing-is-a-new-variant-of-paroxysmal-extreme-pain-disorder
#10
Noboru Imai, Noriko Miyake, Yoshiaki Saito, Emiko Kobayashi, Masako Ikawa, Shinya Manaka, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
BACKGROUND: We encountered a 5-year-old girl who had short-lasting, severe, unilateral temporal headaches with ipsilateral lacrimation, nasal congestion and rhinorrhoea, and facial flushing after severe attacks. Family history revealed similar short-lasting, severe headaches in an older brother, younger sister, mother, maternal aunt, and maternal grandfather's brother. METHODS: We performed routine laboratory examinations and electrophysiological and radiological studies for three children, and whole-exome sequencing to determine the genetic causality in this family...
2015: Journal of Headache and Pain
https://www.readbyqxmd.com/read/25883844/microvascular-decompression-of-the-posterior-inferior-cerebellar-artery-for-intermediate-nerve-neuralgia
#11
Humberto Kluge Schroeder, Iuri Santana Neville, Daniel Ciampi de Andrade, Guilherme Alves Lepski, Manoel Jacobsen Teixeira, Kleber Paiva Duarte
BACKGROUND: Intermediate nerve neuralgia (INN) is an extremely rare craniofacial pain disorder mainly caused by neurovascular compression. CASE DESCRIPTION: We present the case of a 48-year-old female with a 20-month history of intractable paroxysmal INN on the right side. The patient described feeling paroxysmal pain in her auditory canal, pinna, deep in the jaw, and adjacent retromastoid area on the right side. She described the pain as being like a burning sensation...
2015: Surgical Neurology International
https://www.readbyqxmd.com/read/25667902/factitious-psychogenic-nonepileptic-paroxysmal-episodes
#12
Alissa Romano, Saeed Alqahtani, James Griffith, Mohamad Z Koubeissi
Mistaking psychogenic nonepileptic paroxysmal episodes (PNEPEs) for epileptic seizures (ES) is potentially dangerous, and certain features should alert physicians to a possible PNEPE diagnosis. Psychogenic nonepileptic paroxysmal episodes due to factitious seizures carry particularly high risks of morbidity or mortality from nonindicated emergency treatment and, often, high costs in wasted medical treatment expenditures. We report a case of a 28-year-old man with PNEPEs that were misdiagnosed as ES. The patient had been on four antiseizure medications (ASMs) with therapeutic serum levels and had had multiple intubations in the past for uncontrolled episodes...
2014: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/25285947/p-l1612p-a-novel-voltage-gated-sodium-channel-nav1-7-mutation-inducing-a-cold-sensitive-paroxysmal-extreme-pain-disorder
#13
Marc R Suter, Zahurul A Bhuiyan, Cédric J Laedermann, Thierry Kuntzer, Muriel Schaller, Maurice W Stauffacher, Eliane Roulet, Hugues Abriel, Isabelle Decosterd, Christian Wider
BACKGROUND: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. METHODS: Description of a 4-generation family suffering from PEPD with clinical, genetic and electrophysiological studies including patch clamp experiments assessing response to drug and temperature. RESULTS: The family was clinically comparable to those reported previously with the exception of a favorable effect of cold exposure and a lack of drug efficacy including with carbamazepine, a proposed treatment for PEPD...
February 2015: Anesthesiology
https://www.readbyqxmd.com/read/25250524/painful-neuropathies-the-emerging-role-of-sodium-channelopathies
#14
REVIEW
Brigitte A Brouwer, Ingemar S J Merkies, Monique M Gerrits, Stephen G Waxman, Janneke G J Hoeijmakers, Catharina G Faber
Pain is a frequent debilitating feature reported in peripheral neuropathies with involvement of small nerve (Aδ and C) fibers. Voltage-gated sodium channels are responsible for the generation and conduction of action potentials in the peripheral nociceptive neuronal pathway where NaV 1.7, NaV 1.8, and NaV 1.9 sodium channels (encoded by SCN9A, SCN10A, and SCN11A) are preferentially expressed. The human genetic pain conditions inherited erythromelalgia and paroxysmal extreme pain disorder were the first to be linked to gain-of-function SCN9A mutations...
June 2014: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/24817410/painful-micturition-in-a-small-child-an-unusual-clinical-picture-of-paroxysmal-extreme-pain-disorder
#15
Anamarija Meglič, Mirjana Perkovič-Benedik, Katarina Trebušak Podkrajšek, Sara Bertok
BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7. Abnormal pain sensitivity occurs because of changes in the properties of voltage-gated sodium channels. Different mutations in SCN9A and a spectrum of clinical expressions have been described. CASE-DIAGNOSIS/TREATMENT: Here we describe a 3-year-old child with a rare clinical picture of PEPD...
September 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/24813307/painful-and-painless-channelopathies
#16
REVIEW
David L H Bennett, C Geoffrey Woods
The discovery of genetic variants that substantially alter an individual's perception of pain has led to a step-change in our understanding of molecular events underlying the detection and transmission of noxious stimuli by the peripheral nervous system. 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 mutations in this gene produce distinct pain syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder, and small-fibre neuropathy...
June 2014: Lancet Neurology
https://www.readbyqxmd.com/read/24778270/the-clinical-approach-to-small-fibre-neuropathy-and-painful-channelopathy
#17
REVIEW
Andreas C Themistocleous, Juan D Ramirez, Jordi Serra, David L H Bennett
Small fibre neuropathy (SFN) is characterised by structural injury selectively affecting small diameter sensory and/or autonomic axons. The clinical presentation is dominated by pain. SFN complicates a number of common diseases such as diabetes mellitus and is likely to be increasingly encountered. The diagnosis of SFN is demanding as clinical features can be vague and nerve conduction studies normal. New diagnostic techniques, in particular measurement of intraepidermal nerve fibre density, have significantly improved the diagnostic efficiency of SFN...
December 2014: Practical Neurology
https://www.readbyqxmd.com/read/24737233/altered-sodium-channel-gating-as-molecular-basis-for-pain-contribution-of-activation-inactivation-and-resurgent-currents
#18
REVIEW
Angelika Lampert, Mirjam Eberhardt, Stephen G Waxman
Mutations in voltage-gated sodium channels, especially Nav1.7, can cause the genetic pain syndromes inherited erythromelalgia, small fiber neuropathy, paroxysmal extreme pain disorder, and chronic insensitivity to pain. Functional analysis of these mutations offers the possibility of understanding the potential pathomechanisms of these disease patterns and also may help to explicate the molecular mechanisms underlying pain in normal conditions. The mutations are distributed over the whole channel protein, but nevertheless induce similar changes for each pain syndrome...
2014: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/24311784/inherited-pain-sodium-channel-nav1-7-a1632t-mutation-causes-erythromelalgia-due-to-a-shift-of-fast-inactivation
#19
Mirjam Eberhardt, Julika Nakajima, Alexandra B Klinger, Cristian Neacsu, Kathrin Hühne, Andrias O O'Reilly, Andreas M Kist, Anne K Lampe, Kerstin Fischer, Jane Gibson, Carla Nau, Andreas Winterpacht, Angelika Lampert
Inherited erythromelalgia (IEM) causes debilitating episodic neuropathic pain characterized by burning in the extremities. Inherited "paroxysmal extreme pain disorder" (PEPD) differs in its clinical picture and affects proximal body areas like the rectal, ocular, or jaw regions. Both pain syndromes have been linked to mutations in the voltage-gated sodium channel Nav1.7. Electrophysiological characterization shows that IEM-causing mutations generally enhance activation, whereas mutations leading to PEPD alter fast inactivation...
January 24, 2014: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/24202110/-neuropathic-pain-associated-with-nav1-7-mutations-clinical-picture-and-treatment
#20
REVIEW
K Doppler, C Sommer
Voltage-gated sodium channels are essential for electrogenesis in excitable cells. The isoform Nav1.7 is primarily expressed in nociceptors. Mutations of the SCN9A gene, which codes for the α-subunit of Nav1.7, are the cause of primary erythromelalgia and paroxysmal extreme pain disorder, two rare neuropathic pain conditions. Recent studies have shown that mutations in the SCN9A gene are the cause of a subgroup of idiopathic small fiber neuropathies and that polymorphisms of SCN9A are associated with an increase in susceptibility to pain...
December 2013: Der Nervenarzt
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