This past month the journal Neurology, the official publication of the American Academy of Neurology (and the leading publication on the subject), featured presentations and posters from its annual conference in April. Two Cure AHC-funded projects (both from Duke University) were part of this feature and were highlighted at the conference.
The first, Novel Knock-in Mouse Model of Genetic Atp1a3 Dysfunction, demonstrated that mice with E815K mutation also have symptomology that closely match human symptomology. Thus we have a genotype/phenotype correlation in the mouse model as well as in humans. This will help immensely in screening candidate compounds/treatments and in understanding the biochemical differences in the two mutations, that likely will have benefits for all the ATP1A3 mutations, and for stroke, epilepsy, and heart disease.
The second, Effects of Vagal Nerve Stimulation in Alternating Hemiplegia of Childhood, was a poster presentation of preliminary findings in the use of vagus nerve stimulation (VNS) in four AHC Champions. The initial findings suggest that advancements in VNS technology may help those AHC champions with severe seizure activity. More research is needed. If you are interested in finding out if your AHC Champion might benefit from participation in this study, please email DukeAHC@dm.duke.edu.