Welcome To the 3rd
SCN8A & SCN2A
Scientific Conference &
Family Gathering
Building a network across Europe and beyond.
The two genes SCN2A and SCN8A both encode for distinct neuronal sodium channels. Mutations of the genes SCN2A or SCN8A are associated with epilepsy, autism spectrum disorder, intellectual disability, movement disorders and sudden unexpected death in epilepsy patients (SUDEP).
As rare sodium-channel disorders they share commonality of research but they require distinct treatment and expertise, due to their divergent roles during brain development. Improved awareness and early diagnosis are crucial for the patients.
The first European SCN2A/SCN8A Conference (Germany, 2021) put the seed for the birth of several SCN2A & SCN8A patient advocacy organisations forming active networks and beginning to share knowledge and educational events.
The second SCN2A and SCN8A conference in Europe took place in 2023 in Køge,
Denmark. Professionals from around the world had the opportunity to showcase their
knowledge and exchange ideas about current research projects. This gathering not
only advanced scientific progress but also fostered the development of new projects
aimed at improving the understanding and treatment of SCN2A- and SCN8A-related
conditions.
For families of affected individuals, the conference was equally valuable. It provided a
space for meaningful exchange and helped strengthen the network within the
community. The bonds between families grew closer, creating a stronger sense of
unity and offering support in facing the challenges together.
With this positive reflection on the past two years, we are now looking forward to the
third SCN2A and SCN8A conference and family gathering, which will take place from
May 16, 2025, to May 17, 2025, in Siegburg near Bonn (Germany). Once again, we
will have the opportunity to hear fascinating lectures from leading specialists.
In 2025 edition, the focus will be on topics such as disease mechanisms, symptoms
beyond epilepsy, treatment, and many other interesting subjects.
3
Third Edition23
Topics29
SpeakersCommittees
Scientific committee
Elena Gardella, Walid Fazeli
Organizing committee
Stefania Dantone, Anna Homann, Svenja Kaden, Sarah Rieger, Maaike Studemund, Cinzia Scarcelli
Meet our Passionate
event speakers
Elena Gardella
MEDICAL DOCTORDept of Clinical Neurophysiology, Danish Epilepsy Centre Filadelfia
Walid Fazeli
MEDICAL DOCTORChild Neurologist
Deputy Head of Department
Dept of Pediatric Neurology, University Hospital Bonn, Germany
Rikke S. Møller
MEDICAL DOCTORHead of Department of Epilepsy Genetics, Danish Epilepsy Centre, Filadelfia
Roberto Previtali
MEDICAL DOCTORResident in child neurology and psychiatry, University of Milan, Italy
Dennis Lal
UNIVERSITY PROFESSORPhD, Associate Professor, Center Director for Neurogenetics, Dept of Neurology
The University of Texas Health Science Center, Houston, USA
Katherine Howell
MEDICAL DOCTORRoyal Children's Hospital, Melbourne, Australia
Sopio Gverdtsiteli
MEDICAL DOCTORMD, fellow at the Neuroscience Academy Denmark
Francesca Furia
MEDICAL DOCTORMedical Doctor, Phd Student at University of Southern Denmark
Ingrid Scheffer
UNIVERSITY PROFESSORAO MBBS PhD FRACP FAA FAES FRS PresAHMS, Melbourne, Australia
Heinz Beck
UNIVERSITY PROFESSORExperimental epileptology and cognition research, University of Bonn, Germany
Martin Staudt
UNIVERSITY PROFESSORProfessor of Developmental Neuroplasticity, University Tübingen, Germany
Manoj Patel
UNIVERSITY PROFESSORProfessor of Anesthesiology, School of Medicine, University of Virginia, USA
Leah Schust Myers
PATIENT ADVOCATEFounder, Executive Director, FamilieSCN2A Foundation, USA
Kacie Craig
PATIENT ADVOCATEMEd, Executive Director at The Cute Syndrome Foundation - USA
SCN2A Germany
PATIENT ADVOCATEPatient Advocate SCN2A German association
Wenxi Yu
MEDICAL DOCTORPh.D. - Research Investigator, Human Genetics Meisler Lab - University of Michigan - USA
Tobias Brünger
MEDICAL DOCTORPhD, Data Scientist, Department of Neurology, The University of Texas Health Science Center at Houston, Houston, USA
Anthony Frosio
MEDICAL DOCTORPostdoctoral Researcher presso Policlinico San Donato, Milan, Italy
Daniel Bamborschke
MEDICAL DOCTORChild Neurologist
Dept of Pediatric Neurology, University Hospital Bonn, Germany
Marina Trivisano
MEDICAL DOCTORNeurology, Epilepsy and Movement Disorders Unit - Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
Sunanjay Bajaj
MEDICAL DOCTORMD, Resident Physician, Department of Neurology, The University of Texas Health Science Center, Houston, USA
Angelina Tadic
MEDICAL DOCTORPhD student, researcher at SISSA - Trieste, Italy
Anne Koy
MEDICAL DOCTORHead of the Centre for Dystone Childhood Movement Disorders, Koln, Germany
Luismi Aras
MEDICAL DOCTORPre-hospital Emergencies Navarra Health Service
SCN8A Spain Advisor
Dravet Syndrome European Federation Scientific Director
ApoyoDravet Scientific Director
Daniel Fritzen
MEDICAL DOCTORPediatrician
Dept of Pediatric Neurology, University Hospital Bonn, Germany
Praxis Precision Medicines
INDUSTRYClinical-stage biopharmaceutical company
Sarah Krämer
Medical Student
(doctoral candidate)
Vanessa Kasto
Medical Student
(doctoral candidate)
Is This Conference right For You?
Distinctiveness from other epilepsy events
This is the only event in Europe specifically focused on SCN2A and SCN8A, making it unique in its subject matter. This focus is critical, as SCN2A and SCN8A require distinct research approaches and targeted awareness efforts. These efforts are essential to ensure optimal diagnosis and proper treatment for individuals affected by these conditions.
For Families
The aim of the Family Conference is to bring together families and patients with neurodevelopmental disorders associated with mutations in the SCN2A or SCN8A genes, alongside leading experts, clinicians, and researchers in the field. Families will have the opportunity to share their experiences, feelings, hopes, and fears—and to be heard.
For Clinicians and Researchers
The event helps to bring together expertise, evolve data strategies, connect cutting
edge research and stimulate future research projects for these devastating disorders.
Event Schedule
Select a session:
9:15 AM - 9:35 AM
Precision medicine in DEEs - current status
Ingrid Scheffer
9:35 AM - 9:50 AM
SCN8A – clinical spectrum
Elena Gardella
9:50 AM - 10:05 AM
SCN2A – clinical spectrum
Katherine Howell
10:05 AM - 10:25 AM
Genetic mechanisms of sodium-channelopathies
Rikke S. Møller
10:25 AM - 10:45 AM
Targeting aberrant dendritic integration to treat cognitive comorbidities of epilepsy
Heinz Beck
11:15 AM - 11:35 AM
Movement disorders in childhood and adolescents
Anne Koy
11:35 AM - 11:40 AM
Movement disorders in SCN2A
Vanessa Kasto, Walid Fazeli
11:40 AM - 11:50 AM
A joined wearable and video analysis data approach to phenotype people with SCN2A and SCN8A
Sunanjay Bajaj, Dennis Lal
11:50 AM - 12:00 PM
Episodic ataxia in SCN2A
Sopio Gverdtsiteli, Walid Fazeli
12:00 PM - 12:15 PM
Analysis of over 30,000 phenotypic annotations in individuals with SCN8A-related disorders
1:30 PM - 1:40 PM
SCN2A: anti-seizure medication
Beattie Goad, Daniel Fritzen
1:40 PM - 1:50 PM
SCN8A: anti-seizure medication
Elena Gardella
1:50 PM - 2:05 PM
Partial allele-specific knockout by CRISPR rescues SCN8A DEE mice
Wenxi Yu
2:05 PM - 2:20 PM
Gene therapy approaches for the treatment of SCN8A DEE
Manoj Patel
2:20 PM - 2:45 PM
Update in drug development for DEEs
Praxis Precision Medicines
4:15 PM - 4:25 PM
Development of clinical and genetic inclusion criteria for high risk disease modifying therapies in SCN2A
Tobias Brünger, Dennis Lal
4:25 PM - 4:35 PM
Functional characterization of SCN8A variants and pharmacological response: Insights for precision medicine
Anthony Frosio
4:35 PM - 4:45 PM
Prediction tools reliability in SCN8A-related disorders
Francesca Furia, Roberto Previtali
4:45 PM - 4:55 PM
Sleep disturbances in SCN8A
Francesca Furia
4:55 PM - 5:05 PM
Sleep disturbances in SCN2A
Sarah Krämer
5:05 PM - 5:15 PM
MRI findings in SCN2A
Daniel Bamborschke
5:15 PM - 5:25 PM
NDEEMA across sodium channelopathies
Sopio Gverdtsiteli
5:25 PM - 5:35 PM
Cenobamate in sodium channelopathies
Marina Trivisano
Select a session:
9:05 AM - 9:20 AM
Summary of Day 1: SCN2A
Walid Fazeli
9:20 AM - 9:35 AM
Summary of Day 1: SCN8A
Elena Gardella
10:00 AM - 10:20 AM
Empowering Caregivers: Perspective on supporting medically complex children
Kacie Craig
10:20 AM - 10:45 AM
Pediatric palliative care
Martin Staudt
11:30 AM - 11:50 AM
Detail-oriented visual processing and reduced perception of global patterns in the Scn2a+/- rat model of autism spectrum disorder
Angelina Tadic
11:50 AM - 12:15 PM
Parental mosaicism in DEEs
12:15 PM - 12:45 PM
QoL and Burden of illness in SCN2A- and SCN8A- associated disorders
Elena Gardella, Walid Fazeli
2:00 PM - 2:15 PM
How can PAOs grow and strengthen their capacity to support research? Opportunities through philanthropic foundations
SCN2A Germany
2:15 PM - 2:30 PM
Connections that count: partnering with professionals at every stage of the journey
Leah Schust Myers
2:30 PM - 2:45 PM
Building scientific advocacy through collaboration with other DEEs and rare diseases
Luismi Aras
What people said about past Conference
Devra T. Densmore Patient Advocacy Lead @ Praxis, USA
I couldn’t hold in the overwhelming pride I feel for everything you have accomplished. The SCN8A / SCN2A European Families Conference has been absolutely outstanding in every way. I was so engaged yesterday and learned so much. [...] I have been incredibly impressed by what has been shared.
Federica C. SCN8A mum, Italy
Esperienza incredibile... abbiamo conosciuto persone splendide. La ricerca va avanti e noi ringraziamo ogni giorno il lavoro di chi ci ha messo il cuore e l'anima.
Rikke S. Møller Danish Epilepsy Centre, Denmark
Fantastic talks at the first European #SCN2A and #SCN8A Conference and Family Gathering. Together we can make a difference. [...] I really admire the work of the amazing #SCN8A and #SCN2A advocacy groups - they are fighting so hard to improve lives for their love ones.
Iris Engelmann SCN8A mum, Germany
Es war sehr wertvoll, sich persönlich mit Leuten austauschen zu können, mit denen ich zum Teil schon Jahre per Mail Kontakt hatte.
Nicolas Lorente SCN2A dad, Germany
Die Stiftungen The Cute Syndrome Foundation und FamilieSCN2A Foundation und der Verein SCN2A Asia Pacific haben in den letzten Jahren gezeigt, wie wichtig Konferenzen mit Experten und Treffen mit Familien sind. Motivierte SCN2A- und SCN8A-Familien kamen 2020 zusammen, diskutierten die Möglichkeiten und fanden bei Ärzten wie Dr. Walid Fazeli und Dr. Elena Gardella die perfekte Unterstützung, um die Erfahrung aus den USA und Australien nach Europa zu bringen.
Marina SCN2A mum, Germany
Zwischen uns Eltern entstand sehr schnell das Gefühl eine Gemeinschaft zu sein, die sich gegenseitig helfen möchte.
Loredana and Flavio SCN8A parents, Italy
[...] Siamo entusiasti di avere conosciuto i maggior esponenti scientifici, i presidenti delle associazioni e fondazioni nonché i rappresentanti delle aziende farmaceutiche che lavorano sulla produzione di farmaci mirati a correggere la disfunzione responsabile della malattia. Il confronto con altri genitori è stato interessante. Abbiamo condiviso testimonianze, suggerimenti e aspettative.
Aurora SCN8A mum, Spain
Para mi, el Congreso de Bonn, ha supuesto una gran oportunidad de conocer a otros padres y un gran impulso para colaborar y trabajar con ellos para mejorar la vida de nuestros hijos
Meet the event sponsors
SCN2A Italy and SCN2A Germany have jointly received support from the Chan Zuckerberg Initiative’s Rare as One program, enabling them to provide financial support for this networking event.
SCN2A Germany has successfully applied for funding from Aktion Mensch.
Platinum Sponsor
Silver Sponsors
Join us and build a brighter future for our warriors!
Congress Registration
Registration is free of charge. To register please follow the link 3rd SCN2A & SCN8A conference and family gathering - Registration (or scan the QR code below) and register each participant individually. Registrations are open until May 4th. Later registrations can be accepted depending on the structure’s availabilities.
How to reach the Congress Venue
The Kranz Park Hotel is located in Siegburg, near Bonn. The best airports for
reaching Siegburg are Frankfurt Main and Cologne Bonn. Siegburg has a well-
connected ICE train station, which is only an 8-minute walk from the hotel.
If you are traveling by car, please follow the instructions to reach the following
address: Kranz Park Hotel: Mühlenstraße 32–44 - 53721 Siegburg - Deutschland / Germany
Hotel Reservation
All participants and families must book their rooms directly through the Kranz Park
Hotel by contacting info@kranzparkhotel.de. Please use the booking code EU
Conference for our event.
Single rooms, double rooms, and a limited number of junior suites (suitable as family
rooms) are available. If you have any special requirements, please discuss them
directly with the hotel.
Update: We offer a 70,00€ support per participant per night to help cover hotel costs. Additionally, we provide non-medical childcare, which must be registered separately at: Leo Kinderevents.