A recent study published in the American Journal of Medical Genetics sheds new light on the link between epilepsy and faint capillary malformations, associated with mosaic AKT3 pathogenic variants. This research provides fresh insights into these complex conditions.
Capillary malformations (CMs) are the most common vascular anomalies, affecting 0.3% of newborns. While typically caused by variants in GNAQ or GNA11, this study found something different in two young patients with severe epilepsy and CM-like symptoms. Researchers discovered somatic pathogenic variants in the AKT3 gene, absent in PIK3CA, PIK3R1, GNAQ, and GNA11.
DNA analysis from brain tissue of one patient confirmed the AKT3 variant and revealed focal cortical dysplasia. This connection between AKT3 variants and neurological symptoms highlights the importance of genetic analysis for precise diagnoses and personalized treatments.
This study emphasizes the need for thorough genetic testing, especially in atypical cases. Understanding these genetic factors helps clinicians predict disease progression and tailor treatments more effectively.
For more details, read the full study here.
Reference:
Haxhija, E., Baselga, E., van der Vleuten, C., Vikkula, M., Bisdorff-Bresson, A., & others. (2024). Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American Journal of Medical Genetics, 2024. https://doi.org/10.1002/ajmg.a.63551