Schizencephaly in Hereditary Hemorrhagic Telangiectasia

References

1. 1.↵
   1. McDonald J,
   2. Wooderchak-Donahue W,
   3. VanSant Webb C, et al

   . Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 2015;6:1–8 doi:10.3389/fgene.2015.00001 pmid:25674101

   CrossRefPubMed
2. 2.↵
   1. Barkovich AJ,
   2. Guerrini R,
   3. Kuzniecky RI, et al

   . A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135:1348–69 doi:10.1093/brain/aws019 pmid:22427329

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Raybaud C,
   2. Widjaja E

   . Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging Clin N Am 2011;21:483–543, vii doi:10.1016/j.nic.2011.05.014 pmid:21807310

   CrossRefPubMed
4. 4.↵
   1. Squier W,
   2. Jansen A

   . Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun 2014;2:80 doi:10.1186/s40478-014-0080-3 pmid:25047116

   CrossRefPubMed
5. 5.↵
   1. Palagallo GJ,
   2. McWilliams SR,
   3. Sekarski LA, et al

   . The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol 2017;38:383–86 doi:10.3174/ajnr.A4980 pmid:28059706

   Abstract/FREE Full Text
6. 6.↵
   1. Bergerot JF,
   2. Dupuis-Girod S,
   3. Berthezene Y, et al

   . Malformations of cortical development and brain vessels in patients with hereditary haemorrhagic telangiectasia. In: Proceedings of the International Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland; June 12–15, 2013
7. 7.↵
   1. Klostranec JM,
   2. Chen L,
   3. Mathur S, et al

   . A theory for polymicrogyria and brain arteriovenous malformations in HHT. Neurology 2019;92:34–42 doi:10.1212/WNL.0000000000006686 pmid:30584075

   Abstract/FREE Full Text
8. 8.↵
   1. Severino M,
   2. Geraldo AF,
   3. Utz N, et al

   . Definitions and classification of malformations of cortical development: practical guidelines. Brain 2020;143:2874–94 doi:10.1093/brain/awaa174 pmid:32779696

   CrossRefPubMed
9. 9.↵
   1. Faughnan ME,
   2. Mager JJ,
   3. Hetts SW, et al

   . Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med 2020;173:989–1001 doi:10.7326/M20-1443 pmid:32894695

   CrossRefPubMed
10. 10.↵
    1. Abe T,
    2. Singer RJ,
    3. Marks MP, et al

    . Arterial vascular abnormality accompanying cerebral cortical dysplasia. AJNR Am J Neuroradiol 1997;18:144–46 pmid:9010533

    PubMedWeb of Science
11. 11.↵
    1. Shankar JJ,
    2. Banerjee ST,
    3. Hogan M, et al

    . A rare case of cerebral cortical dysplasia with arterial vascular dysplasia. Can J Neurol Sci 2009;36:757–60 doi:10.1017/s0317167100008398 pmid:19960756

    CrossRefPubMed
12. 12.↵
    1. Villa D,
    2. Cinnante C,
    3. Valcamonica G, et al

    . Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG. BMC Neurol 2020;20:316 doi:10.1186/s12883-020-01890-2 pmid:32847536

    CrossRefPubMed
13. 13.↵
    1. Leventer RJ,
    2. Jansen A,
    3. Pilz DT, et al

    . Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 2010;133:1415–27 doi:10.1093/brain/awq078 pmid:20403963

    CrossRefPubMedWeb of Science
14. 14.↵
    1. Curry CJ,
    2. Lammer EJ,
    3. Nelson V, et al

    . Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A 2005;137:181–89 doi:10.1002/ajmg.a.30862 pmid:16059942

    CrossRefPubMed
15. 15.↵
    1. Barkovich AJ,
    2. Rowley H,
    3. Bollen A

    . Correlation of prenatal events with the development of polymicrogyria. AJNR Am J Neuroradiol 1995;16:822–27 pmid:7611049

    Abstract/FREE Full Text
16. 16.↵
    1. Griffiths PD

    . Schizencephaly revisited. Neuroradiology 2018;60:945–60 doi:10.1007/s00234-018-2056-7 pmid:30027296

    CrossRefPubMed
17. 17.↵
    1. Yakovlev PI,
    2. Wadsworth RC

    . Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946;5:169–206 doi:10.1097/00005072-194607000-00001 pmid:20993391

    CrossRefPubMed