World Conference on PCDH19: Scientific Research Status and Therapeutic Perspectives

Fourth Edition -  10-11 November 2017

via Matera, 18 - Rome

Day 1, Friday 10th- 9.30 am/6 pm

9.30 Registration of participants

9.40 Welcome Speech - Francesca Squillante (Onlus Insieme per la Ricerca PCDH19)

SESSION 1 - Expanding the Clinical phenotype - Moderator Bernardo dalla Bernardina (University of Verona)

9.45  Renzo Guerrini (Meyer Children Hospital, Firenze) - Clinical Update on PCDH19

10.00 Rima Nabbout (Paris Descartes University) - Cognition and Behaviour in PCDH19


10.15 Kristy Kolc (University of Adelaide) - Neuropsychiatric profile of PCDH19 epilepsy:

A systematic review and meta-analysis

10.30 - 11.30 Round Table on Cognitive and associated behavioral disturbances - Raffaella Cusmai (OPBG, Roma), Francesca Darra (University of Verona), Nilika Singhal (UCSF, San Francisco) 


SESSION 2 - Therapy, Present and the Future. Challenges in the Development of Novel Treatment Strategies - Moderator Nicola Specchio (OPBG, Roma)

11.45 Giuseppe Biagini (University of Modena and Reggio Emilia) - Stress and seizures:

adrenal function in patients affected by PCDH19 mutation

12.00 Lorianne K. Masuoka (Marinus Pharmaceuticals) - Ganaxolone, a novel

investigational treatment for PCDH19 Epilepsy: Results of a phase 2 open label study

12.15 Alfredo Brusco (University of Turin) - RNA silencing as possible therapeutic

option for EIEE-9 

12.30 – 13.30 Round Table on Therapeutic Treatments (Anecdotal and hard evidence) Carla Marini (Meyer Children Hospital, Firenze), Francesca Ragona (C. Besta, Milano), Marina Trivisano (OPBG, Roma)

13.30 LUNCH

SESSION 3 Cell Biology and Animal Models – Moderator Renzo Guerrini (Meyer Children Hospital, Firenze)

14.30 Paul Thomas (University of Adelaide) - Abnormal cell sorting underlies the unique

X-linked inheritance of PCDH19 Epilepsy

14.50 Gian Michele Ratto (University of Pisa) - Altered sleep in a conditional mouse

model of PCDH19 loss: an EEG study

15.10 Silvia Bassani (CNR, Milano) - The dual role of the female epilepsy protein

PCDH19 at the synapse and the nucleus

15.30 Duyen Pham (University of Adelaide) - Integration of in silico and experimental

assessment of disease-relevance of PCDH19 variants

SESSION 4 Stem Cell Models– Moderator Patrizia D’Adamo (Dulbecco Telethon Institute)

15.50 Jack Parent (University of Michigan)- Human neuronal model of PCDH19-

linked EIEE9

16.10 Jozef Gecz (University of Adelaide) - Cell-based modelling of PCDH19 epilepsy



SESSION 5 Parents’ feedback – Moderator Francesca Squillante (Onlus Insieme per la Ricerca PCDH19)

17.00-18.00 Questions and suggestions, experiences and frustrations from parents

                  and families


Day 2, Saturday 11th- 10 am/1 pm

Post-conference Meeting, Saturday 11th- 10 am/1 pm


 1. Neurosteroids and PCDH19 function

Chair Jozef Gecz 

2. Understanding the PCDH19 role in neuronal development

Chair Jack Parent


3 PCDH19 Variants in patients

Chair Christel Depienne

 4. Lessons from anecdotal evidence

 Chair Bernardo Dalla Bernardina

*The invited researchers will discuss the indicated topics in separated groups for 2 hours.

Then they will come together for a 1 hour joint session during which the chair from each group will give a report of the points discussed, possible solutions and/or next steps to take.