Research News
In this paper, Dyment et al detail a new mouse for the study of Dravet syndrome modeled after a patient mutation. This particular mutation (H939R) does not result in the typical haploinsufficiency where Nav1.1 sodium channel levels are reduced, but rather appears to affect the function of one copy of the sodium channel. Consistent with […]
FINTEPLA (fenfluramine) was recently approved by the FDA for the treatment of seizures in Dravet syndrome. The FDA required Zogenix, Inc to include a black box warning on the label because fenfluramine belongs to a class of drugs that affect a specific serotonin receptor (5-HT2B), and these types of drugs have previously been associated with valvular
In late June 2020, Voskobiynyk et al shared their recent manuscript on bioRxiv (pre-print before peer-review) detailing a novel mouse model of Dravet syndrome that carries the same mutation in a non-coding region as a patient diagnosed with Dravet syndrome. “Non-coding” means that the mutation is not located in an area of the DNA that
Stoke Therapeutics published a paper in Nature Communications detailing the mechanism of action for their new TANGO (targeted augmentation of nuclear gene output) therapy that utilizes ASO (antisense oligonucleotide) technology. While the applications of this technology have been discussed in presentations and meetings, this is the first publication detailing how it was developed. Cells use
In previous research reviews we have talked about “Dravet mice” – usually that means mice which have been engineered to carry a deletion of one copy of the Scn1a gene. These mice exhibit the key features of Dravet syndrome, including febrile and spontaneous seizures, SUDEP, and cognitive and behavioral deficits. But these mice display varying
GABRA2 is a genetic modifier of Dravet syndrome in mice Read More »
In previous posts we have profiled fenfluramine as a recent promising add-on therapy for Dravet syndrome, which not only reduces seizures but also improves executive functioning (behavior, emotions, and cognition). Fenfluramine\’s known pharmacological profile is to bind at 5-HT receptors and enhance the release of serotonin. It is thought that this mechanism is probably insufficient
Fenfluramine acts as a positive modulator of sigma-1 receptors Read More »
Glucagon-like peptide-1 (GLP-1) is a hormone that is secreted from intestinal cells after food ingestion, stimulates insulin secretion, and helps regulate blood sugar levels. It also binds to receptors in the brain and promotes satiety, thereby reducing food intake. For these reasons, GLP-1 analogs have become popular as second-line drugs to treat type 2 diabetes
Belviq Recall The pharmaceutical company, Eisai, recently withdrew Belviq (lorcaserin) from the market at the request of federal regulators. Some members of our patient community began taking Belviq off-label, after reports that it potentially helped with seizure control, even though it received FDA approval as a weight-loss drug. The abrupt withdrawal of Belviq has caused
Belviq Market Withdrawal Read More »
This study used zebrafish to try to gain insights into the very earliest neurodevelopmental effects occurring in Dravet syndrome. In previous posts we have explained that appropriately mutated zebrafish are now an established and useful model for Dravet syndrome. The authors performed behavioral analysis, measured convulsions, and did extensive examination of the functional and morphological
Dravet Syndrome is caused by loss-of-function mutations affecting the NaV1.1 sodium channel. In a July 2019 research summary, we pointed out that gain-of-function mutations in another sodium channel, called NaV1.6, can lead to severe epileptic conditions – suggesting that NaV1.1 and NaV1.6 exist in a balance that maintains proper nerve conduction. This raised the possibility
