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They are usually caused by somatic pathogenic variants in <jats:italic>GNAQ<\/jats:italic> or <jats:italic>GNA11<\/jats:italic>. <jats:italic>PIK3CA<\/jats:italic> and <jats:italic>PIK3R1<\/jats:italic>, part of the phosphoinositide 3\u2010kinase\u2013protein kinase B\u2013mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM\u2010like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in <jats:italic>PIK3CA<\/jats:italic> and <jats:italic>PIK3R1<\/jats:italic>, as well as <jats:italic>GNAQ<\/jats:italic> and <jats:italic>GNA11<\/jats:italic>, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the <jats:italic>AKT3<\/jats:italic> gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the <jats:italic>AKT3<\/jats:italic> variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype\u2013phenotype correlation studies in guiding clinicians' informed decision\u2010making regarding patient care.<\/jats:p>","DOI":"10.1002\/ajmg.a.63551","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T10:13:57Z","timestamp":1707300837000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic <i>AKT3<\/i> pathogenic variants"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2455-1731","authenticated-orcid":false,"given":"Martina","family":"De Bortoli","sequence":"first","affiliation":[{"name":"Human Molecular Genetics de Duve Institute, UCLouvain  Brussels 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