Episodic pain syndrome, familial, 3; FEPS3

Disease ID:332
Name:Episodic pain syndrome, familial, 3; FEPS3
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Familial episodic pain syndrome | Familial episodic pain syndrome with predominantly lower limb involvement
Description
Autosomal dominant, episodic distal limb pain felt as extremely cold, accompanied by sweating, triggered by fatigue, relieved by anti-inflammatory medications.
Database Links
OMIM: 615552
Orphanet: ORPHA391384, ORPHA391392

Targets

Nav1.9
Role:  The I381T mutation shifts activation 6.9mV negative, and slows deactivation. The mutation shifts inactivation in depolarizing direction by 13.3mV. Increased overlap between activation and inactivation increases predicted window current. DRG neurons expressing the mutant channel display depolarized (5.5mV) resting potential, decreased current threshold, increased frequency of firing, and spontaneous activity.
References:  1
Mutations:  Nav1.9 is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for Episodic pain syndrome, familial, 3; FEPS3

References

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1. Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JG, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD et al.. (2014) Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain, 137 (Pt 6): 1627-42. [PMID:24776970]

2. Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X et al.. (2013) Gain-of-function mutations in SCN11A cause familial episodic pain. Am. J. Hum. Genet., 93 (5): 957-66. [PMID:24207120]