PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review

Mutations in PCDH19 are associated with epilepsy, intellectual disability and behavioral disturbances, mostly related to females. The unique X-linked pattern of inheritance affects females predominantly, while usually is transmitted through asymptomatic males. Recently, new research has demonstrated that males with a mosaic pattern of inheritance could also be affected. As yet, PCDH19 mutations have been reported in hundreds of females; however, only 15 mosaic males were reported to exhibit epileptic seizures with the onset ranges between 6 and 31 months. These patients were usually reported to carry various mutations in the PCDH19. Here we describe a non-sense variant at the PCDH19 (c.498C>G; p.Y166*) in the Chinese male that exhibited early developmental delay and frequent seizures starting from the age of 5 months. We aim that this case report, focusing on studying clinical seizures, therapeutic approaches, and the patient's prognosis, will contribute to the cumulative knowledge of this rare and complex genetic disorder.