Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.

H Westley PhillipsAlissa M D'GamaYilan WangYasmine ChahineMichelle ChiuAmanda C SwansonBanu AhtamJeffrey B BoltonJoseph R MadsenEunjung A LeeSanjay P PrabhuHart G LidovJoanna E Papadakis August Yue Huang Annapurna H PoduriScellig S StoneChristopher A Walsh

Published in: Neurology. Genetics (2023)

We demonstrate regional mosaicism across epileptogenic tissue, suggesting a correlation between variant burden and SOZ. We also validate a pathogenic variant from individual amplified sEEG electrode-derived brain specimens, although further optimization of techniques is required.

Keyphrases

white matter
risk factors
copy number
brain injury
subarachnoid hemorrhage
protein kinase