Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.

Olivier FortinMohammed AshourCaroline LacroixChristine A SabapathyKenneth A Myers

Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2020)

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).

Keyphrases

copy number
case report
subarachnoid hemorrhage
genome wide
protein kinase