Epilepsia

Special Issue: Severe Myoclonic Epilepsy – Dravet Syndrome: Thirty Years Later

Here is the complete online version of the Epilepsia supplement co-sponsored by the
Dravet.org and Dravet syndrome UK

Pages 1–104 Click here for publication

Do Children With Dravet Syndrome Have A Recognizable Face?

K. Nolan, E. Kay, C. Camfield and Peter Camfield

Study demonstrates lack of specific facial phenotype in Dravet syndrome that can be observed in photographs by pediatric neurologists or identified by standard measurements. The face of children with Dravet syndrome is apparently indistinguishable from their siblings indicating that SCN1A mutations have no dysmorphic effects. Read more...

Reduced Excitability of GABAergic Interneurons in the Reticular Nucleus of the Thalamus and Sleep Impairment in a Mouse Model of Severe Myoclonic Epilepsy of Infancy

Franck Kalume, J. Oakley, R. Westenbroek, T. Scheuer and W. Catterall

Study suggests that impairment of NaV currents and excitability of RNT GABAergic neurons may lead directly to sleep disturbance in Dravet syndrome (SMEI) that is independent of drug treatment. Read more...

Addition of Verapamil in the Treatment of Severe Myoclonic Epilepsy in Infancy.

Jannetti P. Parisi P. Spalice A. Ruggieri M. Zara F.

Report on the use and long lasting therapy of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome.  Read more...

Insights into Pathophysiology and Therapy from a Mouse Model of Severe Myoclonic Epilepsy of Infancy

William A. Catterall, Department of Pharmacology, University of Washington. Read more...

Dravet syndrome –Severe Myclonic Epilepsy: 30 Years Later Poster Presentations

The following abstract posters contain information gathered from parents on the IDEA League Family Network. They were presented at the workshop Dravet Syndrome – Severe Myoclonic Epilepsy of Infancy: 30 Years Later held in Verona, Italy on October 4-6, 2009.

• Expanding the Clinical Spectrum: Updated Data on Comorbidities in Dravet Syndrome
• Expanding the Clinical Spectrum - Supporting Data
• Mortality and SUDEP [Sudden Unexplained Death of Epilepsy] In Dravet syndrome: Information from Families for Doctors
• Nonfinite Grief: Reasons Doctors and Families Should Discuss SUDEP and Other Sensitive Subjects

The following abstract contains information gathered from parents on the IDEA League Family Network. This was presented at the Annual Meetings of the American Epilepsy Society and Canadian League Against Epilepsy (ILAE) held in San Diego, California, USA on December 1-5, 2006.

• Dravet Syndrome: Expanding the Clinical Spectrum

Effects of Vaccination on Onset and Outcome of Dravet Syndrome: a Retrospective Study

A new study has linked the pertussis vaccine to earlier onset of seizures in Dravet syndrome. The study, published 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.  Read more...