familial episodic pain syndrome with predominantly lower limb involvement (Q55784748)
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A 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.
- FEPS3
- EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3
- Episodic Pain Syndrome, Familial, type 3
- EPISODIC PAIN SYNDROME, FAMILIAL, 3
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | familial episodic pain syndrome with predominantly lower limb involvement |
A 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. |
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Statements
2 references
C125390
1 reference
Identifiers
1 reference
1 reference
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1 reference