Sodium channelopathies and pain

Lampert, Angelika; O’Reilly, Andrias O.; Reeh, Peter W.; Leffler, Andreas

doi:10.1007/s00424-009-0779-3

Cited by 113 publications

(110 citation statements)

References 125 publications

(159 reference statements)

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“…Nevertheless, the age of disease onset as a measure for clinical severity correlates best to the sum of the shift of activation and to that of steady-state fast inactivation (23). Surprisingly A1632T does not shift activation, but steady-state fast inactivation, to more positive potentials.…”

Section: Discussionmentioning

confidence: 96%

Inherited Pain

Eberhardt

Nakajima

Klinger

et al. 2014

Journal of Biological Chemistry

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Background: Mutations in the sodium channel Nav1.7 cause the inherited pain syndromes IEM and PEPD. Results:The new IEM mutation A1632T impairs channel inactivation, whereas an IEM/PEPD crossover mutation (A1632E) at the same position additionally increases resurgent sodium currents. Conclusion: Reduced inactivation without increased resurgent currents induces symptoms of IEM. Significance: Resurgent currents are likely to determine whether a mutation leads to IEM or PEPD.

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Section: Discussionmentioning

confidence: 96%

Inherited Pain

Eberhardt

Nakajima

Klinger

et al. 2014

Journal of Biological Chemistry

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“…In addition, many ion channel genes have been associated with human genetic pain disorders 19 and several mutations in subunits of voltage-gated sodium channels (Navs) causing painful or painless clinical condition have been well studied 20 . Mutations in Nav1.8 channels, encoded by SCN10A, may contribute to painful peripheral neuropathy, whereas several mutations, causing the so-called 'channelopathy-associated insensitivity to pain' 21 , involve the channel Nav1.7 gene encoded by SCN9A, and the Nav1.9 encoded by SCN11A.…”

Section: Discussionmentioning

confidence: 99%

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Cascella

Muzio

2017

Rev. chil. pediatr.

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Introduction. Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions. The purpose of this report is to document a case of a child affected by interstitial Cr4q del, expressing pain insensitivity as clinical feature not previously described. We also offer a discussion on genetic disorders featuring pain insensitivity/indifference. Case report. A Caucasian girl aged 12 came to our observation for a developmental delay with multiple congenital abnormalities and moderate intellectual disability (IQ 47). A de novo interstitial Cr4 del between band q31.3 and q32.2 (Cr4 del q31.3 to q32.2) was found. The child also expresses no evidence of pain perception to injures which normally evoke pain. Consequently, she is affected by severe disability caused by painless injuries and self-injurious behaviours, such as excessive self-rubbing and scratching. The neurological examination manifested high pain threshold with preserved tactile sensitivity. Conclusions. This is the first report of pain insensitivity in a patient with a specific genetic deletion involving the interstitial region of the distal long arm of Cr4. Moreover, this report could serve as a useful model to better understand mechanisms of pain perception and its modulation.

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“…Zimmermann, 15 Lai et al, 119 Cummins et al, 120 Wood et al, 121 Lampert et al 122 Abbreviations: ASIC, acid-sensing ion channels; ATP, adenosine triphosphate; HCN, hyperpolarization-activated cyclic nucleotide-gated channels; NTs: neurotransmitters; TRP, transient receptor potential ion channels.…”

Section: Molecular Neuroplasticity Of Ascending Pain Pathway In Injurmentioning

confidence: 99%

Neuroplasticity of ascending and descending pathways after somatosensory system injury: reviewing knowledge to identify neuropathic pain therapeutic targets

et al. 2016

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Study design: This is a narrative review of the literature. Objectives: This review aims to be useful in identifying therapeutic targets. It focuses on the molecular and biochemical neuroplasticity changes that occur in the somatosensory system, including ascending and descending pathways, during the development of neuropathic pain. Furthermore, it highlights the latest experimental strategies, based on the changes reported in the damaged nociceptive neurons during neuropathic pain states. Setting: This study was conducted in Girona, Catalonia, Spain. Methods: A MEDLINE search was performed using the following terms: descending pain pathways; ascending pain pathways; central sensitization; molecular pain; and neuropathic pain pharmacological treatment. Results and conclusion: Neuropathic pain triggered by traumatic lesions leads to sensitization and hyperexcitability of nociceptors and projection neurons of the dorsal horn, a strengthening in the descendent excitatory pathway and an inhibition of the descending inhibitory pathway of pain. These functional events are associated with molecular plastic changes such as overexpression of voltagegated ion channels, algogen-sensitive receptors and synthesis of several neurotransmitters. Molecular studies on the plastic changes in the nociceptive somatosensory system enable the development of new pharmacological treatments against neuropathic pain, with higher specificity and effectiveness than classical drug treatments. Although research efforts have already focused on these aspects, additional research may be necessary to further explore the potential therapeutic targets in neuropathic pain involved in the neuroplasticity changes of neuropathological pathways from the injured somatosensory system.

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Sodium channelopathies and pain

Cited by 113 publications

References 125 publications

Inherited Pain

Inherited Pain

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

Neuroplasticity of ascending and descending pathways after somatosensory system injury: reviewing knowledge to identify neuropathic pain therapeutic targets

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