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

2020 ◽  
Author(s):  
Marko Bjeloševič ◽  
Katarína Kušíková ◽  
Jaroslav Tomko ◽  
Viera Illíková
Keyword(s):  
Pain Disorder ◽  
Extreme Pain

scholarly journals p.L1612P, a Novel Voltage-gated Sodium Channel Nav1.7 Mutation Inducing a Cold Sensitive Paroxysmal Extreme Pain Disorder

2015 ◽  
Vol 122 (2) ◽  
pp. 414-423 ◽  
Author(s):  
Marc R. Suter ◽  
Zahurul A. Bhuiyan ◽  
Cédric J. Laedermann ◽  
Thierry Kuntzer ◽  
Muriel Schaller ◽  
...  
Keyword(s):  
Steady State ◽  
Sodium Channel ◽  
Cold Exposure ◽  
Pain Disorder ◽  
Clinical Genetic ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Recovery From Inactivation ◽  
Steady State Inactivation ◽  
Extreme Pain

Abstract 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. A novel p.L1612P mutation in the Nav1.7 voltage-gated sodium channel was found in the four affected family members tested. Electrophysiologically the mutation substantially depolarized the steady–state inactivation curve (V1/2 from −61.8 ± 4.5 mV to −30.9 ± 2.2 mV, n = 4 and 7, P < 0.001), significantly increased ramp current (from 1.8% to 3.4%, n = 10 and 12) and shortened recovery from inactivation (from 7.2 ± 5.6 ms to 2.2 ± 1.5 ms, n = 11 and 10). However, there was no persistent current. Cold exposure reduced peak current and prolonged recovery from inactivation in wild-type and mutated channels. Amitriptyline only slightly corrected the steady–state inactivation shift of the mutated channel, which is consistent with the lack of clinical benefit. Conclusions: The novel p.L1612P Nav1.7 mutation expands the PEPD spectrum with a unique combination of clinical symptoms and electrophysiological properties. Symptoms are partially responsive to temperature but not to drug therapy. In vitro trials of sodium channel blockers or temperature dependence might help predict treatment efficacy in PEPD.

scholarly journals Paroxysmal Extreme Pain Disorder M1627K Mutation in Human Nav1.7 Renders DRG Neurons Hyperexcitable

2008 ◽  
Vol 4 ◽  
pp. 1744-8069-4-37 ◽  
Author(s):  
Sulayman D Dib-Hajj ◽  
Mark Estacion ◽  
Brian W Jarecki ◽  
Lynda Tyrrell ◽  
Tanya Z Fischer ◽  
...  
Keyword(s):  
Pain Disorder ◽  
Drg Neurons ◽  
Extreme Pain

Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain)

2007 ◽  
Vol 427 (2) ◽  
pp. 77-82 ◽  
Author(s):  
Yiangos Yiangou ◽  
Paul Facer ◽  
Iain P. Chessell ◽  
Chas Bountra ◽  
Chris Chan ◽  
...  
Keyword(s):  
Ion Channel ◽  
Pain Disorder ◽  
Rectal Pain ◽  
Voltage Gated ◽  
Rectal Hypersensitivity ◽  
Extreme Pain

scholarly journals Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Adam Stępień ◽  
Daria Sałacińska ◽  
Jacek Staszewski ◽  
Marta Durka-Kęsy ◽  
Jan Dobrogowski
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Pain Disorder ◽  
Extreme Pain
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