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Other syndrome with a central nervous system malformation as major feature

MedGen UID:
1842199
Concept ID:
C5680765
Disease or Syndrome
Synonym: Other syndrome with a central nervous system malformation as a major feature
 
Orphanet: ORPHA269531

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOther syndrome with a central nervous system malformation as major feature

Professional guidelines

PubMed

Comi AM
Neurologist 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. PMID: 21712663Free PMC Article
Cross JH
Epilepsia 2005;46 Suppl 10:17-23. doi: 10.1111/j.1528-1167.2005.00353.x. PMID: 16359466
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent clinical studies

Etiology

Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD
Clin Cancer Res 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. PMID: 28620007
Chernoff KA, Schaffer JV
Clin Dermatol 2016 Mar-Apr;34(2):183-204. Epub 2015 Nov 22 doi: 10.1016/j.clindermatol.2015.11.003. PMID: 26903185
Meechan DW, Maynard TM, Tucker ES, Fernandez A, Karpinski BA, Rothblat LA, LaMantia AS
Prog Neurobiol 2015 Jul;130:1-28. Epub 2015 Apr 9 doi: 10.1016/j.pneurobio.2015.03.004. PMID: 25866365Free PMC Article
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225
Thomas PK
J Med Genet 1975 Dec;12(4):317-26. doi: 10.1136/jmg.12.4.317. PMID: 176361Free PMC Article

Diagnosis

Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Garg RK, Paliwal VK, Gupta A
J Med Virol 2021 Jan;93(1):206-222. Epub 2020 Jul 11 doi: 10.1002/jmv.26207. PMID: 32558956
Chernoff KA, Schaffer JV
Clin Dermatol 2016 Mar-Apr;34(2):183-204. Epub 2015 Nov 22 doi: 10.1016/j.clindermatol.2015.11.003. PMID: 26903185
Stutterd CA, Leventer RJ
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):227-39. Epub 2014 May 28 doi: 10.1002/ajmg.c.31399. PMID: 24888723
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822

Therapy

Papadopoulou E, Saroglou M, Ismailos G, Fletsios D, Tsavlis D, Tryfon S
Lupus 2022 May;31(6):650-658. Epub 2022 Mar 24 doi: 10.1177/09612033221088445. PMID: 35324365
Trifan A, Chiriac S, Stanciu C
World J Gastroenterol 2013 Jan 28;19(4):445-56. doi: 10.3748/wjg.v19.i4.445. PMID: 23382623Free PMC Article
Comi AM
Neurologist 2011 Jul;17(4):179-84. doi: 10.1097/NRL.0b013e318220c5b6. PMID: 21712663Free PMC Article
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696
Thimineur M, Sood P, Kravitz E, Gudin J, Kitaj M
Clin J Pain 1998 Sep;14(3):256-67. doi: 10.1097/00002508-199809000-00013. PMID: 9758076

Prognosis

Lee D, Ahn TB
J Neurol Sci 2014 Dec 15;347(1-2):281-7. Epub 2014 Oct 29 doi: 10.1016/j.jns.2014.10.023. PMID: 25455301
Hentati F, Hentati E, Amouri R
Handb Clin Neurol 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. PMID: 23931822
Bathla G, Hegde AN
Clin Radiol 2013 Jun;68(6):545-54. Epub 2012 Nov 9 doi: 10.1016/j.crad.2012.05.021. PMID: 23142023
Hodges JR, Patterson K
Lancet Neurol 2007 Nov;6(11):1004-14. doi: 10.1016/S1474-4422(07)70266-1. PMID: 17945154
Cross JH
Epilepsia 2005;46 Suppl 10:17-23. doi: 10.1111/j.1528-1167.2005.00353.x. PMID: 16359466

Clinical prediction guides

Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B
J Clin Immunol 2023 Aug;43(6):1436-1447. Epub 2023 May 12 doi: 10.1007/s10875-023-01500-z. PMID: 37171742Free PMC Article
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. PMID: 11408337
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225
Crofford LJ, Engleberg NC, Demitrack MA
Baillieres Clin Rheumatol 1996 May;10(2):365-78. doi: 10.1016/s0950-3579(96)80022-7. PMID: 8911654

Recent systematic reviews

Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article

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