| Symbol
| FEPS2
|
| Location
| 3p22.2
|
| Name
|
episodic pain syndrome, familial, 2 |
| Corresponding gene
|
SCN10A
|
| Main clinical features
|
neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities
nerve conduction studies were normal, but skin biopsy showed reduced intraepidermal nerve fiber density in the distal leg
skin biopsy showed complete epidermal denervation |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| neurology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
| abnormal protein/gain of function
|
| |