NEW STUDY FINDS SCN1A MOSIACISM MAY AFFECT GENE EXPRESSIVITY
European researchers have linked mosiacism to the expression of SCN1A gene mutations in children with Dravet syndrome. The study, conducted by leading doctors and scientists, including members of the IDEA League’s Medical Advisory Board, was published this month in the Journal of Medical Genetics.
Click here to read the abstract of this article.
EARLIER ONSET OF SEIZURES IN DRAVET SYNDROME LINKED TO VACCINE, OUTCOMES UNAFFECTED
A new study has linked the pertussis vaccine to earlier onset of seizures in Dravet syndrome. The study, published May 5, 2010 in the Early Online Publication of The Lancet, suggests that administration of the vaccine may initiate the first seizure in patients already destined to develop the disease due to a mutation in the gene SCN1A.
The study, conducted by researchers in Australia, including IDEA League Medical Advisory Board Member PR Ingrid Scheffer, also shows that vaccinations do not adversely affect the outcome of the disease.
Click here to read the complete article.
MAJOR DONATION MADE TO ION CHANNEL EPILEPSY PROGRAM AT MIAMI CHILDREN'S HOSPITAL
The Miami Children's Hospital Foundation has recieved a donation of $1.25 million dollars from an anonymous donor in support of the hospital's Ion Channel Epilepsy Program. This generous donation will serve to further the multidisciplinary care needed for children diagnosed with Dravet syndrome and related forms of epilepsy in the south-eastern portion of the US. The Ion Channel Clinic at Miami Children's Hospital, headed by Drs. Ian Miller and Parul Jayakar, is part of the IDEA League's Collaborative Clinical Research and Comprehensive Care Network (CCR-CCN).
The IDEA League expresses appreciation to those responsible for this generous gift. READ MORE.......
IDEA LEAGUE AND IDEA LEAGUE UK TO SPONSOR PUBLICATION OF VERONA WORKSHOP
The IDEA League and IDEA League UK are pleased to announce that we will be joining to sponsor publication of the proceedings of the workshop Dravet Syndrome – Severe Myoclonic Epilepsy of Infancy: 30 Years Later in a 2010 edition of Epilepsia. Epilepsia is the journal of the International League Against Epilepsy and is the leading, most authoritative source for current clinical and research results on all aspects of epilepsy.
“We are excited to make this important information more readily available to the medical community," says Angela Black, MD, Chair of the IDEA League's Medical Advisory Board. "The publication of this supplement will serve as a tremendous step forward in our mission to increase the understanding of Dravet syndrome among neurologists around the globe, and will undoubtedly lead to improved recognition, diagnosis, and treatment of this condition.”
INTERNATIONAL WORKSHOP ON DRAVET SYNDROME HELD IN VERONA, ITALY: IDEA LEAGUE LEADERS AMONG THOSE PRESENTING
On October 4-6, 2009, an international workshop was held in Verona, Italy, titled Dravet Syndrome – Severe Myoclonic Epilepsy of Infancy: 30 Years Later. Organized by Drs. Charlotte Dravet, Michelle Bureau, Bernardo Dalla Bernardina, and Renzo Guerrini; and with the sponsorship of Biocodex and Nutricia, the conference brought together leading medical experts from across the globe to discuss the latest information on Dravet syndrome (previously known as Severe Myoclonic Epilepsy of Infancy, or SMEI). In addition to presenting data on the natural course, EEG and developmental features of Dravet syndrome, many researchers presented new research into the underlying pathophysiology of SMEI.
The workshop topics were comprehensive. The history and clinical description of Dravet syndrome, along with its various forms, long term course, and comorbidities was covered by Bernardo Dalla Bernadina of Italy, Natalio Fejerman of Argentina, Charlotte Dravet of France, Hirokazu Oguni of Japan, Renzo Guerrini of Italy, Gerhard Kluger of Germany, Ingrid Scheffer of Australia, Pierre Genton of France, and Douglas Nordli of the USA. EEG and developmental features of Dravet syndrome were covered by Franco Guzzetta of Italy, Carlo Tassinari of Italy, Michelle Bureau of France, Bernardo Dalla Bernardina of Italy, Francesca Ragona of Italy, and Nathalie Villeneuve of France. Mortality and SUDEP in Dravet syndrome was discussed by Peter Camfield of Canada, Roberto Caraballo of Argentina, Charlotte Dravet, Angelica Delogu of Italy, Sanjay Sisodiya of the UK and Masako Sakauchi of Japan. Presentations on therapeutic modalities were given by Yushi Inoue of Japan, Tiziana Granata of Italy, Olivier Dulac of France, Catherine Chiron of France, Janet Fisher of the USA, and Roberto Caraballo. Treatment of status epilepticus was discussed by Bernardo Dalla Bernardina, Hirokazu Oguni and Olivier Dulac. Presentations on genetics and research were given by Antonio Delgado-Escueta of the USA, Eric Leguern of France, Annamaria Vezzani of Italy, Tiziana Granata, Peter De Jonghe of Belgium, Arvid Suls of Belgium, Ingrid Scheffer, Carla Marini of Italy, Federico Zara of Italy, Rima Nabbout of France, William Catterall of the USA, Massimo Mantegazza of Italy, and Kazuhiro Yamakawa of Japan.
Several members of the IDEA League were asked to present at the conference, including Founder Joan Skluzacek, Founding Vice President Kate Watts, and Secretary of IDEA League-France, Olivier Parsy. Kate presented information and feedback from parents regarding mortality and SUDEP among children within the IDEA League. Joan followed with a discussion of family’s experiences in adapting to their children’s Dravet syndrome and the importance of forthright discussions between doctors and parents regarding SUDEP and other difficult subjects. In the final session on the role of the associations, Olivier presented on the role of local groups and particularly the IDEA League France in providing family support, Kate discussed “The IDEA League Family Network: Extending Support Across the World,” and Joan discussed the partnership of parents and professionals within the IDEA League promoting research and evidence-based, optimal care to improve the outcome for patients with Dravet syndrome through our Collaborative Clinical Research and Comprehensive Care Network. The group also shared poster presentations that highlighted concerns and/or needs as noted by parents on the IDEA League’s Family Forum. These included: comorbid conditions frequently seen in children with Dravet syndrome, Sudden Unexplained Death in Epilepsy, and grief and the process of adapting to Dravet syndrome. The information in the presentations was well-received by the attendees of the conference.
SCN9A GENE LINKED TO SIMPLE FEBRILE SEIZURES AND DRAVET SYNDROME
Researchers at the University of Utah have linked the sodium channel gene SCN9A to both simple febrile seizures and to the severe phenotype known as Dravet syndrome, or Severe Myoclonic Epilepsy of Infancy (SMEI), according to a report in the Sept. 18 edition of PLoS Genetics.
About 50-80 percent of patients with a clinical diagnosis of Dravet syndrome have a mutation in the sodium channel gene SCN1A. The study at the University of Utah, performed with assistance from researchers in Belgium, found SCN9A mutations in 9% of patients with Dravet syndrome. Six percent had mutations in both genes.
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