Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Hyun Jin ParkChang Ho ShinWon Joon YooTae-Joon ChoMan Jin KimMoon-Woo SeongSung Sup ParkJeong Ho LeeNam Suk SimJung Min KoPublished in: Orphanet journal of rare diseases (2020)
This is the first and largest cohort of molecularly diagnosed patients with MCAP in Korea. Targeted therapy with a PI3K-specific inhibitor, alpelisib, has shown successful outcomes in patients with PROS in a pilot clinical study, so early diagnosis for genetic counseling and timely introduction of emerging treatments might be achieved in the future through optimal genetic testing.