Speeches

The abstracts of the speeches can be accessed here.

VII conferenza_Vigevano.mp4

Federico Vigevano - IRCCS San Raffaele - Roma

State of knowledge about PCDH19

VII conferenza_Dainelli.mp4

Alice Dainelli - Ospedale pediatrico Meyer - Firenze

Initial findings from the Italian RESIDRAS: advantages and complexities in registries implementation

VII conferenza_Ragona.mp4

Francesca Ragona - Istituto Neurologico Carlo Besta – Milano

Cognitive and behavioural features in PCDH19

VII conferenza_Trivisano.mp4

Marina Trivisano - Ospedale Pediatrico Bambino Gesù -Roma

Study Proposal on Therapy Approaches, Effective Treatments, and Therapy Discontinuation

VII conferenza_Gecz.mp4

Joseph Gecz - University of Adelaide

Genotype-Phenotype complexities of PCDH19 variation

Isabel Martinez Garay - University of Valencia

Roles of the epilepsy-related protein PCDH19 during cortical development

VII conferenza_Borghi.mp4

Rossella Borghi - Ospedale Pediatrico Bambino Gesù - Roma

Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy

Jack Parent - University of Michigan

Studying interneuron development in Protocadherin-19 Clustering Epilepsy using mouse and brain organoid models

VII conferenza_Thomas.mp4

Paul Thomas/Stefka Tasheva University of Adelaide

Assessing precision medicine strategies for PCDH19-Clustering Epilepsy using preclinical mouse models

VII conferenza_Petrou.mp4

Steven Petrou - Praxis Precision Medicines - Boston

Targeting Mosaicism in PCDH19 Epilepsy: Development of an ASO Therapy to Silence X-Linked Expression

From the sixth edition:

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.

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