Article
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Cold Spring Harbor molecular case studies - 1 Apr 2022
Chen Wei-Liang, Pao Emily, Owens James, Glass Ian, Pritchard Colin, Shirts Brain H, Lockwood Christina, Mirzaa Ghayda M
Abstract excerpt
The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other...
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