SCN2A Europe and SCN8A Italia proudly announce the 1st SCN2A/SCN8A Family Conference in Cologne, Germany, on 26-27 February 2021.

More information very soon!

SCN2A Europe participated at this webinar about Mendelian epilepsies. Dr. Bobby Koeleman is Group Leader at the Department of Genetics within the Center for Molecular Medicine at the University Medical Center Utrecht since 2001.  He is an expert in epilepsy genetics, dedicated to find genetic causes of both common and rare genetic epilepsies, and subsequently aims to translate the genetic finding to clinical relevance. The webinar recapitulates the basics of human mendelian disease, classic and novel methods of gene mapping, and the different types of mutations, as relevant for epilepsy; the different sequencing methods are explained, and how they are best applied for research and for counselling,  illustrated by examples of several different genetic epilepsies, discussing how the disease gene was detected, the effect of mutations was investigated, and how, in some cases, this has led to precision medicine. 

Rare disease patients tend to be more in favour of sharing health related data than the general population. Next to sharing data to improve their own condition, 95% of rare disease patients are also willing to share their data to improve research on diseases other than theirs. There is a high need for a safe online environment where rare disease patients can share their data to foster research or improve their healthcare. Share4Rare is addressing this need, providing a safe and secure platform where rare disease families can connect and contribute to patient-led research in paediatric rare conditions. SCN2A Europe participated at this webinar.

SCN2A Europe participated at this webinar about ketogenic diet therapy,  a group of high-fat, low-carbohydrate, moderate-protein diets that are used as an effective treatment option for drug-resistant epilepsy. 

By Dr. Natasha Schoeler, Research Dietitian at UCL Great Ormond Street Institute of Child Health. 

SCN2A Europe is part of the EURORDIS Digital School, which just started today. The EURORDIS Digital School aims to empower rare disease patient advocates to use digital communication tools to improve the strategic outreach and community-building capacities of their organisations.

SCN2A Europe participated at the virtual coffee organised by Share4Rare 'Advancing a Patient-Centric Research Agenda', a webinar which focussed on the new Share4Rare research feature that is addressed to patient organisations.

SCN2A Europe participated at this interesting webinar about the transition of children with genetic epilepsies to adulthood, by Dr. Scott Perry. While only some of the SCN2A cases worldwide are already adult, better child care will make possible this transition into adulthood to hopefully all current SCN2A children.

Als Mitglied des Kindernetzwerkes e.V. hat Nicolas Lorente von der Patientenorganisation „SCN2A Europe", die Familien mit SCN2A-verwandten Störungen in Europa vertritt, vom 9. bis 13. März 2020 an der „EURORDIS Winter School" teilgenommen. Mit diesem Beitrag gibt er einen Einblick in die Themen und Organisation der Veranstaltung, die aus gegebenem Anlass kurzfristig zu einer Online-Veranstaltung umgestaltet wurde.

As a member of Kindernetzwerk e.V., Nicolas Lorente from the patient organization "SCN2A Europe", which represents families with SCN2A-related disorders in Europe, took part in the "EURORDIS Winter School" from March 9 to 13, 2020. With this article, he gives an insight into the topics and organization of the event, which has been transformed into an online event at short notice for the occasion.

The Ion Channel Library has included SCN2A Europe in the list of ion channel foundations, associations, alliances and other nonprofits. Many thanks to Artem Kondratskyi for considering us!

SCN2A Europe participated at the INSAR 2020 Keynote Webinar. INSAR is the International Society for Autism Research.

https://insar.confex.com/insar/2020/meetingapp.cgi/Day/2020-06-03

After having enroled in the Share4Rare initiative of the same hospital in Barcelona (Spain) - Sant Joan de Deu - SCN2A Europe managed to convince them to start looking for SCN2A families in RareCommons.

SCN2A Europe participated online at the Genetic Epilepsy Family Conference 2020 organised by GETA. Families, researchers and clinicians brought together the latest research in genetic epilepsy and developmental and epileptic encephalopathies (DEEs), with  a remarkable presence of SCN2A.

SCN2A Europe participated at the Webinar "Improving the quality of rare childhood epilepsy care", organised by DEE-P Connections.

SCN2A Europe participated at the webinar "The Epilepsy Neurogenetics Initiative: Expertise for Challenging Cases", organised by the Children's Hospital of Philadelphia. The lecture provided an overview of CHOP’s Epilepsy NeuroGenetics Initiative (ENGIN) to discover new genetic causes of epilepsy, understand how these genetic variants can lead to seizures, and translate these discoveries into the development of individualized gene-specific treatments.

SCN2A Europe participated in some interesting presentations at the EAN Virtual Congress 2020, where SCN2A was often explicitly mentioned! With over 40.000 online participants, this congress, organised by the European Academy of Neurology, is the biggest event in neurology of 2020!

SCN2A Europe participó en la webinar "Los fármacos no siempre la solución" organizado por Nutricia de la mano de nutricionistas especializadas en dieta cetogénica, y en colaboración con Apoyodravet, con el objetivo de aprender cómo la dieta cetogénica puede ayudar a controlar la epilepsia refractaria.

https://youtu.be/hAA9XEcmK1M

SCN2A Europe participated in the webinar "Los fármacos no siempre la solución" organized by Nutricia with the help of nutritionists specialized in the ketogenic diet, and in collaboration with Apoyodravet, with the aim of learning how the ketogenic diet can help control refractory epilepsy.

SCN2A Europe participó en la jornada organizada por Plena inclusión Madrid. La epilepsia es la patología médica más frecuente en las personas con discapacidad intelectual. Por ese motivo es fundamental seguir avanzando en el conocimiento y en la intervención a personas con discapacidad intelectual o del desarrollo que presentan, además, episodios epilépticos, debido a la alta incidencia de este tipo de casos.

SCN2A Europe participated in the conference organized by Plena inclusión Madrid. Epilepsy is the most frequent medical pathology in people with intellectual disabilities. For this reason, it is essential to continue advancing in the knowledge and intervention of people with intellectual or developmental disabilities who also have epileptic episodes, due to its high incidence.

Today, SCN2A Europe starts a series called ID4D (Information Documents for Discussion) with the objective of informing the SCN2A community about specific topics but also triggering the discussion.

1. Cannabinoids - Status report

Happy reading!

Rare Diseases International (RDI) made its 6th Annual Meeting accessible patient advocates and other stakeholders, who could hear about the latest actions putting rare diseases on the global health agenda.

SCN2A Europe participated at the web event, which brought together rare disease patient organisations from Latin America, North America, Europe, Asia and Africa to learn from each other and carry the voice of patients from their disease areas, countries and regions. 

Find attached the highlights of the 10th European Conference on Rare Diseases and Orphan products, which took place online on 14-15 May 2020.

No idea whether it is a lot or not, but for SCN2A Europe it is a remarkable achievement and confirms that this is the right way to follow. Thanks a lot to everyone and... keep following!

SCN2A Europe proudly presents a poster about SCN2A at the 10th European Conference on Rare Diseases and Orphan Products.

Many thanks to Kris (SCN2A Australia) and Sally (SCN2A UK).

SCN2A Europe participated at this interesting webinar, where SCN2A was very present. Basic information about genetic testing was given by Dr. Dennis Lal, Eduardo Perez-Palma went through the ACMG guidelines and presented a couple of interesting online tools which support the identification and interpretation of variants.

Encuesta realizada entre el 7 y el 11 de abril, con participación de 277 familias en España de muchas comunidades de pacientes. Resultados del impacto de la pandemia en personas con síndrome de Dravet, deficiencia en CDKL5, STXBP1, KCNQ2, PCDH19, SYNGAP1 y síndromes con epilepsia refractaria sin origen genético conocido (e impacto en sus familias). Estudio aceptado para publicación en la revista Epilepsia. Presentación de Ana Mingorance (científica) y el Doctor Ángel Aledo (neurólogo).

Survey conducted between 7 and 11 April, with the participation of 277 families in Spain from many patient groups. Results of the impact of the pandemic in people with Dravet syndrome, deficiency in CDKL5, STXBP1, KCNQ2, PCDH19, SYNGAP1 and syndromes with refractory epilepsy with known genetic origin (and impact on their families). Study accepted for publication in the journal Epilepsy. Presentation by Ana Mingorance (scientist) and Dr. Angel Aledo (neurologist).

Tema: nueva funcionalidad de la plataforma, la cual permite registrarse como usuarias a todas aquellas entidades legalmente constituidas como tal en cualquier país de la Unión Europea.

Topic: New functionality of the platform, which allows all those entities legally constituted as such in any country of the European Union to be registered as users.

Tema: importancia del diagnóstico genético en las enfermedades raras,  tipos de herencia mendeliana y su importancia para el diagnóstico y el consejo genéticos, tipos de tests genéticos y diferencia entre tests de paneles de genes, secuenciación del exoma y secuenciación del genoma, tipos de mutaciones, interpretación de un diagnóstico genético, mutaciones privadas, variantes de significado incierto, caso práctico: el diagnóstico genético en el caso del albinismo.

Topic: importance of genetic diagnosis in rare diseases, types of Mendelian inheritance and its importance for genetic diagnosis and counseling, types of genetic tests and difference between gene panels, exome sequencing and genome sequencing, types of mutations, interpretation of a genetic diagnosis, private mutations, variants of uncertain meaning, case study: genetic diagnosis in the case of albinism

Epilepsy Sparks educates the public regarding epilepsy and common mental health issues affecting those with epilepsy, reduces the feelings of loneliness and shame felt by many affected by epilepsy, as well as  discrimination faced by many people regarding epilepsy and the communication gap between neurologists, scientists, researchers, employers, and those affected by epilepsy.

Under www.scn2a.eu/articles, you will find the most relevant SCN2A articles, listed chronologically, the most recent on top of the page. Happy reading!

The Genetic and Rare Diseases Information Center (GARD) has added SCN2A Europe to their internal database so GARD can provide information about it to individuals and families who contact us directly regarding SCN2A related disorders.

Even if only virtual, the EURORDIS Winter School 2020 took place and was very successful! Find enclosed my notes and my take aways for the SCN2A community.

SNC2A Europe was informed today that the suggested poster "Autism, Epilepsy and Genetics - An experience with the gene SCN2A" has been accepted for the 10th European Conference on Rare Diseases & Orphan Products 2020, which will now be online. A great opportunity to create SCN2A awareness! 

Within just few days, EURORDIS managed to replace the on-site training by a webinar session - well done! Very interesting presentations will help SCN2A Europe identify what and how the next steps are to be taken.

SCN2A Europe hat über SCN2A, Europa und die Zukunft mit Dr. Walid Fazeli, Facharzt für Kinder- und Jugendmedizin im Bereich Neuropädiatrie der Kinderklinik der Uniklinik Köln, sowie wissenschaftlicher Mitarbeiter am Institut für Molekulare und Verhaltensneurowissenschaften der Universität zu Köln. Dr. Walid Fazeli begrüsst eine enge Zusammenarbeit in Europa und auch weltweit.

SCN2A Europe talked about SCN2A, Europe and the future with Dr. Walid Fazeli, specialist in the field neuropediatrics at the children's clinic of the University Hospital Cologne, and researcher at the Institute for Molecular and Behavioral Neurosciences at the University of Cologne. Dr. Walid Fazeli welcomes close cooperation in Europe and worldwide.

It represents the kick-off of a very special March 2020, where SCN2A Europe will visit: EURORDIS Winter School (9-13), different organisations in Barcelona (16-17), Kindernetzwerk e.V. (18) and the 'Channelopathy meeting' in Tübingen (19-20). Amazing time ahead! 

SCN2A Europe war von +3 (plus-drei.de) eingeladen, Einblicke in der Vergangenheit und in der Zukunft vom SCN2A in Europa.

SCN2A Europe was invited by +3 (plus-drei.de) to give insights in the past and the future of SCN2A in Europe.

A big step forward towards more awareness and more visibility of SCN2A in Europe - the SCN2A Europe website www.scn2a.eu has been launched! Please feel free to comment and send me any request or question.

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A. In this chapter 14, "Family Stories", Nicolas Lorente talks about his son and SCN2A Europe.

SCN2A Europe hat die Stiftung Care-for-Rare besucht, um über die Tätigkeiten der Stiftung zu erfahren und die Ziele von SCN2A Europe zu präsentieren. Vielen Dank an Dr. Albrecht Matthaei für Ihre Unterstützung. 

SCN2A Europe visited the Care-for-Rare Foundation to know more about their activities and to present the objectives of SCN2A Europe. Many thanks to Dr. Albrecht Matthaei for his support.

SCN2A Europe publishes its objectives for 2020.

Mit grosser Freude begrüssen wir die Veröffentlichung unseres Artikels über die Mutation im SCN2A Gen in unserer Familie im Heft #88 des Autismus Deutschland e.V.

EN

SCN2A Europe has been selected together with other 30 patient representatives to participate at the next EURORDIS Winter School on Scientific Innovation and Translational Research, one week of face-to-face training in Paris in March 2020.

EURORDIS launched the training with the aim of deepening patient representatives’ understanding of how pre-clinical research translates into real benefits for rare disease patients.

Eine ausführliche Krankheitsbeschreibung von SCN2A verwandten Störungen wurde vom Kindernetzwerk e.V. veröffentlicht. Das Dokument befindet sich unter 'Resources' > 'Documents'.

An extended description of SCN2A related disorders have been published by the association Kindernetzwerk e.V. Find the document under 'Resources' > 'Documents'.

Dr. Markus Wolff, Stefania Dantone and myself, Nicolas Lorente, met in Berlin to discuss the SCN2A strategy for Europe.

Within the framework of the activity "SCN2A 2K Virtual Race" organised by the US Foundation FamilieSCN2A, funds were collected and friends met to raise awareness and have fun together.

Seit September 2019 ist SCN2A Europe Mitglied bei Kindernetzwerk e.V., Dachverband der Selbsthilfe von Familien mit Kindern und jungen Erwachsenen mit chronischen Erkrankungen und Behinderungen.

Since September 2019, SCN2A Europe is part of Kindernetzwerk e.V., association for groups of families with children and young adults with chronic diseases and disabilities.