Article
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
American journal of medical genetics. Part A - 1 Jun 2024
De Bortoli Martina, Ivars Marta, Revencu Nicole, Nassogne Marie-Cécile, Lavarino Cinzia, Paco Sonia, Lammens Martin, Renders Anne, Dumitriu Dana, Helaers Raphaël, Boon Laurence M, Baselga Eulalia, Vikkula Miikka
Abstract excerpt
Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two...
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