Speeches

Phenotype‐genotype correlations in PCDH19 Syndrome

Federico Vigevano (Director of Neuroscience DPT, Bambino Gesù Children's Hospital of Rome)

Precision medicine: from a national registry to neuronal modeling based on individual genome data

Simona Balestrini (Professor at Neuroscience Department, Children's Hospital A. Meyer-University of Florence)

Altered neuronal connectivity in a conditional knockout mouse model with PCDH19 mosaic expression

Sara Mazzoleni, Giorgia Giansante, Maura Francolini, Mariaelvina Sala, Luca Murru, Silvia Bassani, and Maria Passafaro

Human Pluripotent Stem Cell and Mouse Models of PCDH19 Clustering Epilepsy

Jack Parent (William J. Herdman Professor of Neurology and co-director of the Comprehensive Epilepsy Center at the University of Michigan Medical School)

Multiomic analysis implicates Nuclear Hormone Receptor and Wnt/β-catenin signalling in Clustering Epilepsy

Rebekah de Nys, Clare van Eyk, Raissa Relator, Rudrarup Bhattacharjee, Tarin Ritchie, Stefka Mincheva-Tasheva, Paul Thomas, Bekim Sadikovic, Raman Kumar and Jozef Gecz

Cell- and region-specific Pcdh19 expression and elimination: insights into PCDH19 function in health and disease

Stefka Mincheva-Tasheva, Chandran Pfitzner, Michaela Scherer, Raman Kumar, Louise Robertson, Idha Kurtsdotter, Jonas Muhr, Jozef Gecz and Paul Q. Thomas

Recreating the phenotype of DEE9 in a conditional model for PCDH19

Silvia Landi and Gian Michele Ratto

The intracellular domain of the epilepsy-related protein PCDH19 regulates spine density in cortical neurons

Isabel Martinez Garay

Round table - genetics and clinics.