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. 2020 Nov;47(6):828-829.
doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23.

Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis

Olivier Fortin  1 , Mohammed Ashour  1   2 , Caroline Lacroix  3 , Christine A Sabapathy  4   5 , Kenneth A Myers  1   4   6
Affiliations

Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis

Olivier Fortin et al. Can J Neurol Sci. 2020 Nov.

Abstract

Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834).

Keywords: Cerebral sinus venous thrombosis; Macrocephaly; Megalencephaly-capillary malformation-polymicrogyria; PIK3CA; Stroke.

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