Genetics Home Reference: 15q11-q13 duplication syndrome

By | January 27, 2019
  • Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Am J Med Genet A. 2016 Oct;170(10):2531-9. doi: 10.1002/ajmg.a.37844. Epub 2016 Aug 11.

  • Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014 Mar;55(3):396-402. doi: 10.1111/epi.12530. Epub 2014 Feb 6.

  • DiStefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SS. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. J Neurodev Disord. 2016 May 6;8:19. doi: 10.1186/s11689-016-9152-y. eCollection 2016.

  • Finucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, Jeste SS, LaSalle JM, Reiter LT, Schanen NC, Spence SJ, Thibert RL, Calvert G, Luchsinger K, Cook EH. 15q Duplication Syndrome and Related Disorders. 2016 Jun 16. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK367946/

  • Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O. Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. Epilepsy Behav. 2016 Aug;61:1-5. doi: 10.1016/j.yebeh.2016.04.001. Epub 2016 May 21.

  • Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis. 2010 May;38(2):181-91. doi: 10.1016/j.nbd.2008.08.011. Epub 2008 Sep 18. Review.

  • Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O’Donovan MC, Owen MJ, Bassett A, Kirov G. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet. 2016 May 6;12(5):e1005993. doi: 10.1371/journal.pgen.1005993. eCollection 2016 May.

  • Kwasnicka-Crawford DA, Roberts W, Scherer SW. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region. J Autism Dev Disord. 2007 Apr;37(4):694-702.

  • Luchsinger K, Lau H, Hedlund JL, Friedman D, Krushel K, Devinsky O. Parental-reported pain insensitivity in Dup15q. Epilepsy Behav. 2016 Feb;55:124-7. doi: 10.1016/j.yebeh.2015.10.007. Epub 2016 Jan 13.

  • Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurol Scand. 2018 Jun;137(6):575-581. doi: 10.1111/ane.12902. Epub 2018 Jan 23.

  • Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P. Electroclinical features of epilepsy in patients with InvDup(15). Seizure. 2017 Apr;47:87-91. doi: 10.1016/j.seizure.2017.03.006. Epub 2017 Mar 9. Review.

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