STXBP1-encephalopathy (STXBP1-E) is a rare genetic neurodevelopmental disorder, caused by pathogenic variants in the STXBP1 gene, with an estimated incidence of 1 in 30.000. STXBP1-E is characterized by developmental delay often leading to (severe) intellectual disability, and seizures in most patients. Behavioral problems and movement disorders such as tremor and ataxia are frequent comorbidities. At the moment there is no cure and treatment is limited to symptom control. With this first European STXBP1 summit we want to connect healthcare professionals and fundamental researchers working on STXBP1 with patients and their caregivers. The aim of this event is to promote collaborative networks, share knowledge and create awareness on STXBP1-E. We strongly believe that we can only advance our understanding of this rare disorder and advance the search for a cure by extensive collaboration with both the international research community and the STXBP1 families who have their own personal expertise with the disease. To this aim, we invite professionals and patient advocates from all over Europe, also specifically addressing under-represented countries, to join the 1st European STXBP1 Summit.
Organization Committee
Ganna Balagura
IRCCS Giannina Gaslini Institute, Italy
Charlene Son Rigby
STXBP1 Foundation, USA
Matthijs Verhage
VU Amsterdam, Netherlands
Sarah Weckhuysen
University of Antwerp, Belgium
Congress venue
NH Milano Touring
Via Iginio Ugo Tarchetti, 2
20121 Mian, Italy
Registration
Registration is free and by invitation from the Organizing Committee
Organizing Secretariat
Symposia Organizzazione Congressi Srl
Piazza Campetto 2/8 – 16123 Genova
Tel. +39 010 255146 r.a.
symposia@symposiacongressi.com
www.symposiacongressi.com
Megan Abbott, Aurora (USA)
Manuel Álvarez Dolado, Sevilla (Spain)
Stephane Auvin, Paris (France)
Ganna Balagura, Genoa (Italy)
Michael Boland, New York (USA)
Altair Britos dos Santos, Copenhagen (Denmark)
Hilgo Bruining, Amsterdam (Netherlands)
Scott Demarest, Aurora (USA)
Anna Fetta, Bologna (Italy)
Francesca Furia, Odense (Denmark)
Angeles Garcia Cazorla, Barcelona (Spain)
Elena Gardella, Odense (Denmark)
Jacqueline Gofshteyn, Philadelphia (USA)
James Goss, Pittsburgh (USA)
Zachary Grinspan, New York (USA)
Noah Guiberson, New York (USA)
Andrea Guzzetta, Pisa (Italy)
Anne Hallemans, Antwerp (Belgium)
Ingo Helbig, Philadelphia (USA)
Lara Janssen, Amsterdam (Netherland)
Pierre-Pascal Lenck-Santini, Marseille (France)
Klaus Linkenkaer-Hansen, Amsterdam (Netherlands)
Xavier Liogier, London (United Kingdom)
Faye McLeod, Newcastle (United Kingdom)
Andrea Miele, Aurora (USA)
Mathieu Milh, Marseille (France)
Lukas Neukomm, Lausanne (Swiss)
Miriam Öttl, Amsterdam (Netherland)
Jennifer Panagoulis, Austin (USA)
Jean-Francois Perrier, Copenhagen (Denmark)
Ben Prosser, Philadelphia (USA)
Amparo Roig Adam, Amsterdam (Netherlands)
Sarah Ruggiero, Philadelphia (USA)
Emilio Russo, Catanzaro (Italy)
Christel Schäfer, Lausanne (Switzerland)
Charlene Son Rigby, San Francisco (USA)
Jakob Sørensen, Copenhagen (Denmark)
Hannah Stamberger, Antwerp (Belgium)
Pasquale Striano, Genoa (Italy)
Steffen Syrbe, Heidelberg (Germany)
Ruud Toonen, Amsterdam (Netherlands)
Matthijs Verhage, Amsterdam (Netherlands)
Sarah Weckhuysen, Antwerp (Belgium)
Mingshan Xue, Houston (USA)
Symposia Organizzazione Congressi Srl
Piazza Campetto 2/8 – 16123 Genova
Tel. 010 255146 r.a. – Fax 010 2770565
symposia@symposiacongressi.com
P.IVA 03849570100