SCN8A European Federation

SCN8A European Federation The registered office is in Amsterdam (NL).

The SCN8A European Federation was officially established on 9th February 2023, with Cinzia Scarcelli as president, Gregori Cabanach as treasurer and Gaby De Leeuw as secretary.

The Third SCN8A and SCN2A International Conference & family Gathering saw the participation of 130 attendees, among clin...
19/05/2025

The Third SCN8A and SCN2A International Conference & family Gathering saw the participation of 130 attendees, among clinicians, researchers and families, from more than 20 countries around the world.

The coordination of the clinicians Walid Fazeli and Elena Gardella allowed, as in previous years, to create a high scientific level and very constructive meeting.

The format of a joint conference, with the two paralogous genes, SCN8A and SCN2A, groups, which we started as a pilot project in 2021, has been consecrated as very successful, both by all the academics and the pharmaceutical companies attending. took care of all the organization.

The Dianalund group, led by Elena Gardella and Rikke Moller, confirms itself as a world leader in the study of the SCN8A mutation, with an impressive scientific production in terms of new data collected and scientific publications. The Dianalund group is also the leader and coordinator of the Natural History Study of the SCN8A mutation, which includes data of more than 800 patients worldwide, collected directly from the hospitals. It is a huge work, instrumental for the clinical development of new drugs.

New ideas, projects and collaborations raised and will be presented at the next International Conference dedicated to SCN8A and SCN2A mutations, in 2027 in Denmark.

Cinzia Scarcelli
SCN8A Italia ODV President

Once again the SCN2A and SCN8A communities will join their forces! The 3rd  scientific conference, this year only in pre...
24/03/2025

Once again the SCN2A and SCN8A communities will join their forces! The 3rd scientific conference, this year only in presence, will go deeply into diverse topics including drug repurposing, access to diagnosis/treatments, clinical research networks, clinical trials, gene therapy apporaches, data standards and tools, and impact of rare diseases on patients and their families.
We would like to to give a big shoutout to for the logistic organization!

We and the scientific leaders Elena Gardella (Dianalund) and Walid Fazeli (Germany) are really proud to announce that th...
23/01/2025

We and the scientific leaders Elena Gardella (Dianalund) and Walid Fazeli (Germany) are really proud to announce that the scientific programme will be out soon! Our unique, 2-day conference, focused on SCN2A and SCN8A- related disorders, will bring the latest updates on those rare diseases to the scientific community. Families are welcoming and invited to share their personal experiences as caregivers. This is more than just a conference! This event fosters networking, learning and new research projects. Tks for the logistic organization

As in previous years, Ana Mignorance J Espada- scientific advisor-  wrote a detailed summary about AES Congress 2024 in ...
17/12/2024

As in previous years, Ana Mignorance J Espada- scientific advisor- wrote a detailed summary about AES Congress 2024 in LA.
“The future is now” with exciting and tangible progress in disease-modification.
Sadly, gene therapy for SCN8A is not around the corner, but the number of progress made so far and 2 clinical trials for our loved ones were unimaginable just a few years ago! https://www.draccon.com/dracaena-report/2024aes

We are delighted to announce the 3rd scientific conference  dedicated to SCN2A and SCN8A- related disorders.As in the la...
31/10/2024

We are delighted to announce the 3rd scientific conference dedicated to SCN2A and SCN8A- related disorders.
As in the last 4 years, it will be a 2-day conference that brings scientists together, so they can share their science, discuss common interests, engage in new collaborations or projects, helping science move forward. Families can share their perspectives with the scientific community to help them to deeply understand the burden of those devastating mutations.

The data on 12 patients suggest that cenobamate is a promising and safe treatment for SCN8A-DEE, even during early infan...
20/10/2024

The data on 12 patients suggest that cenobamate is a promising and safe treatment for SCN8A-DEE, even during early infancy. As a possible precision approach to treatment, cenobamate effectively reduced seizure burden and ameliorated non-seizure-related symptoms.
This is a very useful paper that every family can share with neurologists and doctors, to reach a better precision medicine.
Thanks again 🙏 to the great epilepsy research group in Dianalund in Denmark 🇩🇰, led by Elena Gardella and Rikke Moller, and the neurologists that contribute to this data collection, 🇪🇸 and Roberto Previtali 🇮🇹, among the others.

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22/09/2024

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We are sorry to share the passing of Antonella, from Brazil. Please keep her family in your thoughts.
05/09/2024

We are sorry to share the passing of Antonella, from Brazil. Please keep her family in your thoughts.

Unfortunately we have to share another loss, Mack from USA, 1 yo.No words to express our feelings.
21/08/2024

Unfortunately we have to share another loss, Mack from USA, 1 yo.
No words to express our feelings.

The road to rare disease treatment and research is not often a straight path.This roadmap meeting raised great discussio...
18/08/2024

The road to rare disease treatment and research is not often a straight path.
This roadmap meeting raised great discussions, highlighting the weaknesses and help the community to understand how to work together to move the research forward, as quickly as possible, from the bench to the patients.
Thanks for organizing this terrific kickoff and thanks parents, Madeleine and Chris, for the outstanding efforts.
Your science, from the bottom of your heart, leads the future!
Thanks everyone that has dedicated a whole weekend to this meeting, clinicians, researchers, biotechs and family members.spain

Another terrible loss in our small community, little Rhavi from Belgium has gained his wings an only 1 year.
01/08/2024

Another terrible loss in our small community, little Rhavi from Belgium has gained his wings an only 1 year.

Adres

Amsterdam

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SCN8A Europe

Wenn Sie diese Website besuchen, kennen Sie wahrscheinlich jemanden mit der SCN8A-Diagnose. Eine Mutation im SCN8A-Gen äußert sich zumeist so, dass ein Nav1.6 Natriumkanal (im Gehirn stark ausgeprägte) unnormale Funktionsweisen präsentiert. Es hat sich gezeigt, dass die SCN8A-Genmutation für Epilepsie, kognitive wie motorische Störungen und Autismus verantwortlich sein kann. SCN8A Europe sitzt in München und kooperiert mit der weltweiten Organisation, The Cute Syndrome Foundation, die ihren Sitz in den USA hat, um betroffene Familien zu unterstützen. Wenn Sie jemanden mit der SCN8A-Diagnose kennen, wenden Sie sich bitte an [email protected]. So können Sie der internationalen Gruppe zur Unterstützung von SCN8A-Familien beitreten.

If you are visiting this page, probably you know someone with the SCN8A diagnosis. The SCN8A gene mutation results in the production of a Nav 1.6 sodium channel (highly expressed in the brain) showing abnormal functionality. The SCN8A gene mutation has been found to cause epilepsy, intellectual disability, movement disorders, autism. SCN8A Europe is based in Munich (Germany) and collaborates with the worldwide organization, based in USA, The Cute Syndrome Foundation, to support families. If someone you know has received an SCN8A diagnosis, please write to [email protected], you will be asked to join the international families support group.

Si está visitando esta página web, probablemente conoce a alguien con el diagnóstico SCN8A.Una mutación en el gen SCN8A habitualmente resulta en la producción de un canal de sodio Nav 1.6 (muy pronunciada en el cerebro) con funcionalidad anormal.La mutación SCN8A se ha manifestado como causa de epilepsia, discapacidad intelectual y motora, y autismo.SCN8A Europe tiene su sede principal en Munich, Alemania, y coopera con la organización global, con sede en EE.UU., The Cute Syndrome Foundation, con el objetivo de apoyar a familias afectadas.Si conoce a alguien con el diagnóstico SCN8A, por favor escriba un e-mail a [email protected] para que sea invitado al grupo de apoyo.

Se está visitando este site, provavelmente conhece alguém com diagnóstico SCN8A. Uma mutação no gene SCN8A geralmente resulta na produção de um canal de sódio Nav 1.6 (muito pronunciado na pele) com funcionalidade anormal. A mutação SCN8A manifestou-se como uma causa de epilepsia, disabilidade intelectual e motora, e autismo. A SCN8A Europe tem sede em Munique, Alemanha, e coopera com a organização global sediada nos Estados Unidos, The Cute Syndrome Foundation, com o objetivo de apoiar as famílias afetadas. Se conhece alguém com o diagnóstico SCN8A, por favor escreva um e-mail para [email protected]. Vão convidá-lo para o grupo de apoio.