# familial episodic pain syndrome with predominantly lower limb involvement

> rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age

**Wikidata**: [Q55784748](https://www.wikidata.org/wiki/Q55784748)  
**Source**: https://4ort.xyz/entity/familial-episodic-pain-syndrome-with-predominantly-lower-limb-involvement


## References

1. Monarch Disease Ontology release 2018-06-29
2. Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168356/MONDO_0014247)