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Deletion of 15q11.2–15q13.1 in isolated human hemimegalencephaly

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Fig. 1

References

  1. Aronica E, Boer K, Baybis M, Yu J, Crino P (2007) Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly. Acta Neuropathol (Berl) 114(3):287–293

    Article  CAS  Google Scholar 

  2. Boer K, Troost D, Spliet WG, Redeker S, Crino PB, Aronica E (2007) A neuropathological study of two autopsy cases of syndromic hemimegalencephaly. Neuropathol Appl Neurobiol 33:455–470

    Article  CAS  PubMed  Google Scholar 

  3. Flores-Sarnat L (2002) Hemimegalencephaly. Part 1. Genetic, clinical, and imaging aspects. J Child Neurol 17:373–384

    Article  PubMed  Google Scholar 

  4. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM et al (2002) The human genome browser at UCSC. Genome Res 12:996–1006

    CAS  PubMed  Google Scholar 

  5. Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C et al (2003) PTEN hamartoma tumour syndrome: variability of an entity. J Med Genet 40:e111

    Article  CAS  PubMed  Google Scholar 

  6. Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB (1995) Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? Hum Genet 96:485–489

    Article  CAS  PubMed  Google Scholar 

  7. Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM (2005) Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet A 139:204–211

    PubMed  Google Scholar 

  8. Yu J, Baybis M, Lee A, McKhann G, Chugani D, Kupsky W et al (2005) Targeted gene expression analysis in hemimegalencephaly; activation of β-catenin signaling. Brain Pathol 15:179–186

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

Supported by National Institutes of Health NS045877 (P.B.C.); the National Epilepsy Fund “Power of the Small” and Hersenstichting Nederland (NEF 05-11 and NEF 09-5; E.A.). We thank J. Yu for technical support. The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Neurology, PENN Epilepsy Center, University of Pennsylvania Medical Center, 3 West Gates Bldg., 3400 Spruce St., Philadelphia, PA, 19104, USA

    Marianna Baybis & Peter B. Crino

  2. Department of (Neuro)Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Eleonora Aronica

  3. Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands

    Eleonora Aronica

  4. Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA, USA

    Katherine L. Nathanson

Authors
  1. Marianna Baybis
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  2. Eleonora Aronica
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  3. Katherine L. Nathanson
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  4. Peter B. Crino
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Corresponding author

Correspondence to Peter B. Crino.

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Baybis, M., Aronica, E., Nathanson, K.L. et al. Deletion of 15q11.2–15q13.1 in isolated human hemimegalencephaly. Acta Neuropathol 118, 821–823 (2009). https://doi.org/10.1007/s00401-009-0603-3

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  • DOI: https://doi.org/10.1007/s00401-009-0603-3

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