June 15, 2005BrainOpen Access

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

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Key result

The novel SCN9A mutation in familial erythromelalgia lowers action potential thresholds and induces high-frequency firing in sensory neurons.

Population

A family with erythromelalgia and dorsal root ganglion neurons

Design

Preclinical

Authors

SDSulayman D. Dib‐HajjCentre National de la Recherche Scientifique ARAnthony M. RushGranta Design (United Kingdom)TCT.R. CumminsIndiana University Indianapolis

Discussion

Member takes

Implication

May inform SCN9A-targeted pain therapies; leaves open clinical translation from animal models.

Structured PICO

Population

A family with erythromelalgia and dorsal root ganglion neurons

Intervention

Novel mutation in SCN9A (Na(v)1.7 sodium channel)

Outcome

Ion channel function and firing thresholds in dorsal root ganglion neuronssurrogate

This study provides the first evidence linking an inherited pain disorder (erythromelalgia) to a specific ion channel mutation (SCN9A/Nav1.7) that alters the firing of pain-signaling neurons.

Cite This Study

Dib‐Hajj et al. (2005) studied this question. The novel SCN9A mutation in familial erythromelalgia lowers action potential thresholds and induces high-frequency firing in sensory neurons.

synapsesocial.com/papers/698e32efd0beb585959577f4 https://doi.org/10.1093/brain/awh514

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

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