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1st European STXBP1 Summit and Research Roundtable


Main topics

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.

Scientific Information

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

General information

Congress venue
NH Milano Touring
Via Iginio Ugo Tarchetti, 2
20121 Mian, Italy

Organizing Secretariat
Symposia Organizzazione Congressi Srl
Piazza Campetto 2/8 – 16123 Genova
Tel. +39 010 255146 r.a.


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)
Kristin Cunningham, Philadelphia (USA)
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)
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)

Samuel Pierce, Philadelphia (USA)
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)
Julie Xian, Philadelphia (USA)

Mingshan Xue, Houston (USA)
Federico Zara, Genova (Italy)

Supported by



Symposia Organizzazione Congressi Srl
Piazza Campetto 2/8 – 16123 Genova

Tel. 010 255146 r.a. – Fax 010 2770565

P.IVA 03849570100

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