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Xu, R. Periventricular Heterotopia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5244 (accessed on 22 September 2026).
Xu R. Periventricular Heterotopia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5244. Accessed September 22, 2026.
Xu, Rita. "Periventricular Heterotopia" Encyclopedia, https://encyclopedia.pub/entry/5244 (accessed September 22, 2026).
Xu, R. (2020, December 24). Periventricular Heterotopia. In Encyclopedia. https://encyclopedia.pub/entry/5244
Xu, Rita. "Periventricular Heterotopia." Encyclopedia. Web. 24 December, 2020.
Periventricular Heterotopia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/periventricular-heterotopia

Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy.

genetic conditions

References

  1. Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J,Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P,Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB,Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathwayderegulation and cause periventricular nodular heterotopia. Nat Genet. 2016Nov;48(11):1349-1358. doi: 10.1038/ng.3676.
  2. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis. 2010May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008.
  3. Liu JS. Molecular genetics of neuronal migration disorders. Curr NeurolNeurosci Rep. 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5. Review.
  4. LoTurco JJ, Bai J. The multipolar stage and disruptions in neuronal migration.Trends Neurosci. 2006 Jul;29(7):407-413. doi: 10.1016/j.tins.2006.05.006.
  5. Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression ofARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles:insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan20;494(3):476-84.
  6. Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C,Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M,Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, LeonardiG, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypicheterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul;129(Pt7):1892-906.
  7. Sheen VL. Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease. Scientifica (Cairo).2012;2012:480129. doi: 10.6064/2012/480129.
  8. Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronalmigration disorders: clinical, neuroradiologic and genetics aspects. ActaPaediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x.
  9. Verrotti A, Spalice A, Ursitti F, Papetti L, Mariani R, Castronovo A,Mastrangelo M, Iannetti P. New trends in neuronal migration disorders. Eur JPaediatr Neurol. 2010 Jan;14(1):1-12. doi: 10.1016/j.ejpn.2009.01.005.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 967
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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