A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

por Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef
Publicado 2018

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

por 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
Publicado 2020

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

por Pham, Duyen H., Tan, Chuan C., Homan, Claire C., Kolc, Kristy L., Corbett, Mark A., McAninch, Dale, Fox, Archa H., Thomas, Paul Q., Kumar, Raman, Gecz, Jozef
Publicado 2017