Article
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
Advances in experimental medicine and biology - 1 Jan 2020
Kolc Kristy L, Møller Rikke S, Sadleir Lynette G, Scheffer Ingrid E, Kumar Raman, Gecz Jozef
Abstract excerpt
Protocadherin-19 (PCDH19) pathogenic variants cause an infantile onset epilepsy syndrome called Girls Clustering Epilepsy due to the vast majority of affected individuals being female. This syndromic name was developed to foster early recognition and diagnosis in infancy. It has, however, sparked debate, as, there are rare males with postzygotic somatic, and therefore, mosaic, PCDH19 pathogenic variants with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.