U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes

MedGen UID:
1842735
Concept ID:
C5680431
Disease or Syndrome
Orphanet: ORPHA166475

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes

Professional guidelines

PubMed

Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Raghu G, Remy-Jardin M, Richeldi L, Thomson CC, Inoue Y, Johkoh T, Kreuter M, Lynch DA, Maher TM, Martinez FJ, Molina-Molina M, Myers JL, Nicholson AG, Ryerson CJ, Strek ME, Troy LK, Wijsenbeek M, Mammen MJ, Hossain T, Bissell BD, Herman DD, Hon SM, Kheir F, Khor YH, Macrea M, Antoniou KM, Bouros D, Buendia-Roldan I, Caro F, Crestani B, Ho L, Morisset J, Olson AL, Podolanczuk A, Poletti V, Selman M, Ewing T, Jones S, Knight SL, Ghazipura M, Wilson KC
Am J Respir Crit Care Med 2022 May 1;205(9):e18-e47. doi: 10.1164/rccm.202202-0399ST. PMID: 35486072Free PMC Article
Kamada T, Satoh K, Itoh T, Ito M, Iwamoto J, Okimoto T, Kanno T, Sugimoto M, Chiba T, Nomura S, Mieda M, Hiraishi H, Yoshino J, Takagi A, Watanabe S, Koike K
J Gastroenterol 2021 Apr;56(4):303-322. Epub 2021 Feb 23 doi: 10.1007/s00535-021-01769-0. PMID: 33620586Free PMC Article

Recent clinical studies

Etiology

Strykowski R, Adegunsoye A
Immunol Allergy Clin North Am 2023 May;43(2):209-228. Epub 2023 Mar 3 doi: 10.1016/j.iac.2023.01.010. PMID: 37055085
León-Román F, Valenzuela C, Molina-Molina M
Med Clin (Barc) 2022 Aug 26;159(4):189-194. Epub 2022 Jun 1 doi: 10.1016/j.medcli.2022.02.020. PMID: 35659420
Brun SP
Aust J Gen Pract 2019 Nov;48(11):757-761. doi: 10.31128/AJGP-07-19-4992. PMID: 31722459
Heckmann JG, Urban PP, Pitz S, Guntinas-Lichius O, Gágyor I
Dtsch Arztebl Int 2019 Oct 11;116(41):692-702. doi: 10.3238/arztebl.2019.0692. PMID: 31709978Free PMC Article
Collard HR, Ryerson CJ, Corte TJ, Jenkins G, Kondoh Y, Lederer DJ, Lee JS, Maher TM, Wells AU, Antoniou KM, Behr J, Brown KK, Cottin V, Flaherty KR, Fukuoka J, Hansell DM, Johkoh T, Kaminski N, Kim DS, Kolb M, Lynch DA, Myers JL, Raghu G, Richeldi L, Taniguchi H, Martinez FJ
Am J Respir Crit Care Med 2016 Aug 1;194(3):265-75. doi: 10.1164/rccm.201604-0801CI. PMID: 27299520

Diagnosis

Benegas Urteaga M, Ramírez Ruz J, Sánchez González M
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:227-239. doi: 10.1016/j.rxeng.2022.10.009. PMID: 36737162
Martinez FJ, Collard HR, Pardo A, Raghu G, Richeldi L, Selman M, Swigris JJ, Taniguchi H, Wells AU
Nat Rev Dis Primers 2017 Oct 20;3:17074. doi: 10.1038/nrdp.2017.74. PMID: 29052582
Richeldi L, Collard HR, Jones MG
Lancet 2017 May 13;389(10082):1941-1952. Epub 2017 Mar 30 doi: 10.1016/S0140-6736(17)30866-8. PMID: 28365056
Collard HR, Ryerson CJ, Corte TJ, Jenkins G, Kondoh Y, Lederer DJ, Lee JS, Maher TM, Wells AU, Antoniou KM, Behr J, Brown KK, Cottin V, Flaherty KR, Fukuoka J, Hansell DM, Johkoh T, Kaminski N, Kim DS, Kolb M, Lynch DA, Myers JL, Raghu G, Richeldi L, Taniguchi H, Martinez FJ
Am J Respir Crit Care Med 2016 Aug 1;194(3):265-75. doi: 10.1164/rccm.201604-0801CI. PMID: 27299520
Yaman O, Dalbayrak S
Turk Neurosurg 2014;24(5):646-57. doi: 10.5137/1019-5149.JTN.8838-13.0. PMID: 25269032

Therapy

Rodeghiero F
Int J Hematol 2023 Mar;117(3):316-330. Epub 2023 Jan 9 doi: 10.1007/s12185-022-03527-1. PMID: 36622549
Dimitrijević V, Šćepanović T, Jevtić N, Rašković B, Milankov V, Milosević Z, Ninković SS, Chockalingam N, Obradović B, Drid P
Int J Environ Res Public Health 2022 Dec 13;19(24) doi: 10.3390/ijerph192416730. PMID: 36554613Free PMC Article
Glass DS, Grossfeld D, Renna HA, Agarwala P, Spiegler P, DeLeon J, Reiss AB
Clin Respir J 2022 Feb;16(2):84-96. Epub 2022 Jan 10 doi: 10.1111/crj.13466. PMID: 35001525Free PMC Article
Gámiz-Bermúdez F, Obrero-Gaitán E, Zagalaz-Anula N, Lomas-Vega R
Clin Rehabil 2022 May;36(5):597-608. Epub 2021 Dec 28 doi: 10.1177/02692155211070452. PMID: 34962437
Wong AW, Ryerson CJ, Guler SA
Respir Res 2020 Jan 29;21(1):32. doi: 10.1186/s12931-020-1296-3. PMID: 31996266Free PMC Article

Prognosis

Vancheri C, Kreuter M, Richeldi L, Ryerson CJ, Valeyre D, Grutters JC, Wiebe S, Stansen W, Quaresma M, Stowasser S, Wuyts WA; INJOURNEY Trial Investigators
Am J Respir Crit Care Med 2018 Feb 1;197(3):356-363. doi: 10.1164/rccm.201706-1301OC. PMID: 28889759
Long B, Koyfman A, Runyon MS
Emerg Med Clin North Am 2017 Nov;35(4):803-824. Epub 2017 Aug 24 doi: 10.1016/j.emc.2017.07.001. PMID: 28987430
Richeldi L
BMC Med 2015 Sep 24;13:231. doi: 10.1186/s12916-015-0481-6. PMID: 26399729Free PMC Article
Hutchinson J, Fogarty A, Hubbard R, McKeever T
Eur Respir J 2015 Sep;46(3):795-806. Epub 2015 May 14 doi: 10.1183/09031936.00185114. PMID: 25976683
Ley B, Collard HR, King TE Jr
Am J Respir Crit Care Med 2011 Feb 15;183(4):431-40. Epub 2010 Oct 8 doi: 10.1164/rccm.201006-0894CI. PMID: 20935110

Clinical prediction guides

Walsh SLF
Curr Opin Pulm Med 2018 Sep;24(5):445-452. doi: 10.1097/MCP.0000000000000507. PMID: 30015679
Cottin V, Richeldi L
Eur Respir Rev 2014 Mar 1;23(131):106-10. doi: 10.1183/09059180.00008613. PMID: 24591667Free PMC Article
Antoniou KM, Margaritopoulos GA, Tomassetti S, Bonella F, Costabel U, Poletti V
Eur Respir Rev 2014 Mar 1;23(131):40-54. doi: 10.1183/09059180.00009113. PMID: 24591661Free PMC Article
Richeldi L
Eur Respir Rev 2013 Jun 1;22(128):103-5. doi: 10.1183/09059180.00001413. PMID: 23728863Free PMC Article
Lenke LG, Betz RR, Harms J, Bridwell KH, Clements DH, Lowe TG, Blanke K
J Bone Joint Surg Am 2001 Aug;83(8):1169-81. PMID: 11507125

Recent systematic reviews

Pagan M, Magann EF, Rabie N, Steelman SC, Hu Z, Ounpraseuth S
Ultrasound Obstet Gynecol 2023 Mar;61(3):302-309. Epub 2023 Feb 6 doi: 10.1002/uog.24973. PMID: 35723677
Dimitrijević V, Šćepanović T, Jevtić N, Rašković B, Milankov V, Milosević Z, Ninković SS, Chockalingam N, Obradović B, Drid P
Int J Environ Res Public Health 2022 Dec 13;19(24) doi: 10.3390/ijerph192416730. PMID: 36554613Free PMC Article
Gámiz-Bermúdez F, Obrero-Gaitán E, Zagalaz-Anula N, Lomas-Vega R
Clin Rehabil 2022 May;36(5):597-608. Epub 2021 Dec 28 doi: 10.1177/02692155211070452. PMID: 34962437
Ceballos Laita L, Tejedor Cubillo C, Mingo Gómez T, Jiménez Del Barrio S
Arch Argent Pediatr 2018 Aug 1;116(4):e582-e589. doi: 10.5546/aap.2018.eng.e582. PMID: 30016036
Zis P, Sarrigiannis PG, Rao DG, Hewamadduma C, Hadjivassiliou M
J Neurol 2016 Oct;263(10):1903-10. Epub 2016 Mar 9 doi: 10.1007/s00415-016-8082-7. PMID: 26961897

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...