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Episodic pain syndrome, familial, 2(FEPS2)

MedGen UID:
816223
•Concept ID:
C3809893
•
Disease or Syndrome
Synonym: FEPS2
 
Gene (location): SCN10A (3p22.2)
 
Monarch Initiative: MONDO:0014246
OMIM®: 615551

Definition

Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012). For a discussion of genetic heterogeneity of familial episodic pain syndrome, see 615040. [from OMIM]

Clinical features

From HPO
Dysesthesia
MedGen UID:
97901
•Concept ID:
C0392699
•
Finding
Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Diagnosis and Management of Cyclic Vomiting Syndrome: A Critical Review.
Frazier R, Li BUK, Venkatesan T
Am J Gastroenterol 2023 Jul 1;118(7):1157-1167. Epub 2023 Feb 15 doi: 10.14309/ajg.0000000000002216. PMID: 36791365
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Clinical Practice Guideline: Tonsillectomy in Children (Update).
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Recent clinical studies

Etiology

Sleepwalking, sleep terrors, sexsomnia and other disorders of arousal: the old and the new.
Idir Y, Oudiette D, Arnulf I
J Sleep Res 2022 Aug;31(4):e13596. Epub 2022 Apr 6 doi: 10.1111/jsr.13596. PMID: 35388549
Monoclonal antibody therapy in COVID-19.
Conti P, Pregliasco FE, Calvisi V, Caraffa Al, Gallenga CE, Kritas SK, Ronconi G
J Biol Regul Homeost Agents 2021 Mar-Apr;35(2):423-427. doi: 10.23812/Conti_Edit_35_2_1. PMID: 33904269
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Clinical Practice Guideline: Tonsillectomy in Children (Update).
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778
Erythromelalgia.
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961

Diagnosis

Diagnosis and Management of Cyclic Vomiting Syndrome: A Critical Review.
Frazier R, Li BUK, Venkatesan T
Am J Gastroenterol 2023 Jul 1;118(7):1157-1167. Epub 2023 Feb 15 doi: 10.14309/ajg.0000000000002216. PMID: 36791365
Sleepwalking, sleep terrors, sexsomnia and other disorders of arousal: the old and the new.
Idir Y, Oudiette D, Arnulf I
J Sleep Res 2022 Aug;31(4):e13596. Epub 2022 Apr 6 doi: 10.1111/jsr.13596. PMID: 35388549
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Erythromelalgia.
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Psychogenic unilateral pseudoptosis.
Bagheri A, Abbasnia E, Pakravan M, Roshani M, Tavakoli M
Ophthalmic Plast Reconstr Surg 2015 May-Jun;31(3):e55-7. doi: 10.1097/IOP.0000000000000069. PMID: 24608330

Therapy

NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
Demir F, Sözeri B
Clin Exp Rheumatol 2023 Oct;41(10):2115-2121. Epub 2023 Oct 9 doi: 10.55563/clinexprheumatol/kzggp3. PMID: 37877365
Diagnosis and Management of Cyclic Vomiting Syndrome: A Critical Review.
Frazier R, Li BUK, Venkatesan T
Am J Gastroenterol 2023 Jul 1;118(7):1157-1167. Epub 2023 Feb 15 doi: 10.14309/ajg.0000000000002216. PMID: 36791365
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Clinical Practice Guideline: Tonsillectomy in Children (Update).
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778
Setting up TRAPS.
Pettersson T, Kantonen J, Matikainen S, Repo H
Ann Med 2012 Mar;44(2):109-18. Epub 2011 Feb 1 doi: 10.3109/07853890.2010.548399. PMID: 21284532

Prognosis

Cyclic vomiting syndrome in children.
Goldman RD
Can Fam Physician 2021 Nov;67(11):837-838. doi: 10.46747/cfp.6711837. PMID: 34772711Free PMC Article
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Erythromelalgia.
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Chronic daily headache in children and adolescents.
Seshia SS
Curr Pain Headache Rep 2012 Feb;16(1):60-72. doi: 10.1007/s11916-011-0228-9. PMID: 22102156
Fictitious epilepsy.
Meadow R
Lancet 1984 Jul 7;2(8393):25-8. doi: 10.1016/s0140-6736(84)92008-7. PMID: 6145941

Clinical prediction guides

Short- and long-term neuropsychiatric outcomes in long COVID in South Korea and Japan.
Kim S, Lee H, Lee J, Lee SW, Kwon R, Kim MS, Koyanagi A, Smith L, Fond G, Boyer L, Rahmati M, López Sánchez GF, Dragioti E, Cortese S, Shin JY, Choi A, Suh HS, Lee S, Solmi M, Min C, Shin JI, Yon DK, Fusar-Poli P
Nat Hum Behav 2024 Aug;8(8):1530-1544. Epub 2024 Jun 25 doi: 10.1038/s41562-024-01895-8. PMID: 38918517
Sleepwalking, sleep terrors, sexsomnia and other disorders of arousal: the old and the new.
Idir Y, Oudiette D, Arnulf I
J Sleep Res 2022 Aug;31(4):e13596. Epub 2022 Apr 6 doi: 10.1111/jsr.13596. PMID: 35388549
Erythromelalgia.
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Impact of Prodromal Symptoms on Future Adverse Cardiac-Related Events: A Systematic Review.
O'Keefe-McCarthy S, Ready L
J Cardiovasc Nurs 2016 Jan-Feb;31(1):E1-10. doi: 10.1097/JCN.0000000000000207. PMID: 25419940
Psychogenic unilateral pseudoptosis.
Bagheri A, Abbasnia E, Pakravan M, Roshani M, Tavakoli M
Ophthalmic Plast Reconstr Surg 2015 May-Jun;31(3):e55-7. doi: 10.1097/IOP.0000000000000069. PMID: 24608330

Recent systematic reviews

Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report.
Hospach T, Blankenburg F, Heinkele A, von Kalle T, Uziel Y, Kallinich T, Rücklová K
Pediatr Rheumatol Online J 2024 Sep 10;22(1):85. doi: 10.1186/s12969-024-01019-6. PMID: 39256780Free PMC Article
A Core Outcome Set for Interventions to Prevent and/or Treat Delirium in Palliative Care.
Bryans A, Siddiqi N, Burry L, Clarke M, Koffman J, Agar MR, Rose L
J Pain Symptom Manage 2023 Oct;66(4):293-300.e8. Epub 2023 Jun 12 doi: 10.1016/j.jpainsymman.2023.05.013. PMID: 37311495
Hematidrosis (bloody sweat): a review of the recent literature (1996-2016).
Kluger N
Acta Dermatovenerol Alp Pannonica Adriat 2018 Jun;27(2):85-90. PMID: 29945265
Impact of Prodromal Symptoms on Future Adverse Cardiac-Related Events: A Systematic Review.
O'Keefe-McCarthy S, Ready L
J Cardiovasc Nurs 2016 Jan-Feb;31(1):E1-10. doi: 10.1097/JCN.0000000000000207. PMID: 25419940

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      Clinical tests in GTR
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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