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Familial episodic pain syndrome with predominantly lower limb involvement
rareA 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.
- Identifiers
- MONDO:0014247 OMIM:615552Orphanet:391392
- Causal genes
- SCN11A
- Also known as
- episodic pain syndrome, familial, 3 · episodic pain syndrome, familial, type 3 · FEPS3
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