Familial Episodic Pain Syndrome: Difference between revisions

Familial Episodic Pain Syndrome
Inheritance	Heterozygous
Genetics	FEPS type I - TRPA1, activating ; FEPS type II - SCNA10A, activating; FEPS type III - SCN11A (Nav1.9), activating

Revision as of 21:48, 30 March 2023

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Familial episodic pain syndrome (FEPS) encompasses a group of non-inflammatory, paroxysmal pain syndromes primarily affecting the distal extremities. These syndromes can be classified into three types based on the pathogenic gene involved: FEPS1, caused by transient receptor potential cation channel (TRPA1) gene mutation; FEPS2, due to sodium voltage-gated channel alpha subunit 10A (SCN10A) gene mutation; and FEPS3, resulting from sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation.

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 FEPS type III	- SCN11A (Nav1.9), activating
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-Familial episodic pain syndrome (FEPS) encompasses a group of non-inflammatory, paroxysmal pain syndromes primarily affecting the distal extremities. These syndromes can be classified into three types based on the pathogenic gene involved: FEPS1, caused by transient receptor potential cation channel (TRPA1) gene mutation; FEPS2, due to sodium voltage-gated channel alpha subunit 10A (SCN10A) gene mutation; and FEPS3, resulting from sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation. FEPS3 is a particularly rare nerve ion channel disease that typically begins in infancy and is characterized by episodic pain in the distal limbs, with early detection being difficult due to limited symptom expression in infants and young children.
+Familial episodic pain syndrome (FEPS) encompasses a group of non-inflammatory, paroxysmal pain syndromes primarily affecting the distal extremities. These syndromes can be classified into three types based on the pathogenic gene involved: FEPS1, caused by transient receptor potential cation channel (TRPA1) gene mutation; FEPS2, due to sodium voltage-gated channel alpha subunit 10A (SCN10A) gene mutation; and FEPS3, resulting from sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation.
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