Inflammation in Genetic Epilepsy

Summary, originally published in Epilepsia

Brain inflammation plays a role in human epilepsy, but most studies have focused on acquired epilepsies, such as those due to head trauma, viral infection or other insults. Neuroinflammation has never been reported in genetic epilepsy associated with ion channel gene mutations.

Jing-Qiong (Katty) Kang, MD, PhD, and colleagues previously characterized how mutations in the gene encoding a GABA-A receptor subunit — part of an ion channel that blunts excitatory signaling — contribute to epileptogenesis in mouse models.

They now report in the journal Epilepsia that mice with a particular GABA-A receptor subunit mutation (a model for the genetic epilepsy Dravet syndrome) have increased levels of proinflammatory factors in the brain, but not in the plasma. They found increased neuroinflammation in multiple brain regions and throughout different developmental stages and showed that it was independent of seizure occurrence.

This research was supported by grants from Citizens United for Research in EpilepsyDravet Syndrome Foundation, Vanderbilt Brain Institute, and National Institutes of Health (NS082635, TR002243). 

Impact of the COVID-19 Lockdown on Patients and Families with Dravet Syndrome

Summary, originally published in Epilepsia Open

We explored the impact of coronavirus virus 2019 (COVID-19) pandemic on patients with Dravet Syndrome (DS) and their family. With European patient advocacy groups (PAGs), we developed an online survey in 10 languages to question health status, behavior, personal protection, and health services before and after lockdown.

Approximately 538 European PAG members received electronic invitations. Survey ran from 14 April to 17 May 2020 with 219 answers; median age 9 y 10 m. Protection against infection were highly used prior to COVID-19, but 88% added facemask-use according to pandemic recommendations. Only one patient was tested positive for COVID?19. Most had stable epilepsy during lockdown and few families (4%) needed emergency care during lockdown. However, behavior disorder worsened in over one-third of patients, regardless of epilepsy changes. Half of appointments scheduled prior to lockdown were postponed; 12 patients (11%) had appointments fulfilled; 39 (36%) had remote consultations. Responders welcomed remote consultations. Half of responders were unsatisfied with psychological remote support as only few (21 families) received this support. None of the five of patient in clinical trials stopped investigational treatment. Prior adoption of protective measures against general infection might have contributed to avoiding COVID-19 infections. Protocols for the favored remote contact ought to now be prepared.

Specific ICD-10 Codes for Dravet Ultimately Could Improve Patient Outcomes

Article, originally published by Dravet Syndrome News

Dravet syndrome now has its own global health statistics codes — known as “ICD-10” codes — that potentially could result in improved patient outcomes and enhanced clinical and scientific knowledge of the genetic disorder.

The National Center for Health Statistics has designated what are known as International Statistical Classification of Diseases and Related Health Problems (ICD) codes specifically for Dravet. Before, the disease was lumped in with a broad group of epileptic conditions with different causes and treatment strategies, under the code G40.8.

The dedicated Dravet syndrome codes, which took effect Oct. 1, are expected to make it easier for those in the field to conduct research, determine prevalence and morbidity and mortality rates, and recruit patients for clinical trials. The codes also will help researchers and clinicians to track treatment outcomes and develop protocols for a standard of care.