This artice is free to access.
T; p.(Pro451Leu) and c.918C>G; p.(Tyr306∗) variants occurred in mosaic status. Mutations were confirmed by Sanger sequencing and quantified by real-time polymerase chain reaction (PCR). Up to now, the traditional molecular screening for PCDH19-related epilepsy has been targeted to all females with early onset epilepsy with or without cognitive impairment. Male patients were generally excluded. We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients.
Terracciano, A., Trivisano, M., Cusmai, R., De Palma, L., Fusco, L., Compagnucci, C., … Specchio, N. (2016). PCDH19-related epilepsy in two mosaic male patients. Epilepsia, 57(3), e51–e55. https://doi.org/10.1111/epi.13295