Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Translational psychiatry - 4 May 2020
Kolc Kristy L, Sadleir Lynette G, Depienne Christel, Marini Carla, Scheffer Ingrid E, Møller Rikke S, Trivisano Marina, Specchio Nicola, Pham Duyen, Kumar Raman, Roberts Rachel, Gecz Jozef
Abstract excerpt
Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is an X-chromosome disorder that affects heterozygous females and mosaic males, however hemizygous ("transmitting") males are spared. We aimed to define the neuropsychiatric profile associated with PCDH19 pathogenic variants and determine if a clinical profile exists for transmitting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.