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

Latest revision as of 21:52, 30 March 2023

This article is a stub.

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.

Resources

Familial episodic pain syndromes - Shen 2022.pdf - 2.31 MB (f)

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 {{Authors}}
 {{Condition
+|quality=Stub
 |inheritance=Heterozygous
 |genetics=FEPS type I - TRPA1, activating <br>
 FEPS type II - SCNA10A, activating<br>
 FEPS type III	- SCN11A (Nav1.9), activating
-|clinicalfeatures=Familial episodic pain syndrome type I	TRPA1 (TRPA1)	Heterozygous, activating	Onset at birth or in infancy; episodic chest or arm pain; triggers are hunger and cold
-Familial episodic pain syndrome type III	SCN11A (Nav1.9)	Heterozygous, activating	Onset in first decade; episodic hand and foot pain; triggers are intercurrent illness or exercise
 }}
-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.
+==Resources==
+{{PDF|Familial episodic pain syndromes - Shen 2022.pdf}}
 ==See Also==
 [[Channelopathies and Chronic Pain]]
+[[Sodium Channelopathies]]
 [[Category:Genetic Disorders]]
 {{References}}
 {{Reliable sources}}