News

Next-generation sequencing techniques have revealed that genetic mutations in the KCND3 gene may be responsible for more types of epilepsy than previously thought, and new candidate genes associated with Dravet syndrome have been identified, a new study reports. The study, “Gene mutational analysis in a cohort of Chinese children…

Zogenix has announced the submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) and a Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) for Fintepla (ZX008), its investigational compound for the treatment of epileptic seizures associated with…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Warning the reporter accompanying him not to take any pictures, veteran horticulturalist Michael Castleman punches an electronic code and unlocks the door to Room 209, nicknamed the “Mother Room.” Photography is indeed forbidden inside this living vault, which contains 20 phenotypes of cannabis plants thriving under the glare of 25…

Lisuride, an antiparkinson medicine with demonstrated anti-seizure effects, was able to stop epileptic activity in a model of convulsant Dravet syndrome zebrafish, researchers report. The study with that finding, “Drug repurposing for Dravet syndrome in scn1Lab−/− mutant zebrafish,” was published in Epilepsia. Dravet syndrome is considered one of…

With the goal of advancing development of new treatments for patients living with poorly controlled seizures, the Epilepsy Foundation has awarded $300,000 in grants to two leading researchers. The grants will go to Matthew Gentry, PhD, a professor at the University of Kentucky, and Greg Worrell, MD, PhD,…

Lab techniques and bioinformatic tools are essential for helping physicians and scientists distinguish between the benign and disease-causing SCN1A gene variants associated with Dravet syndrome and other disorders, according to a recent review study. The review, “SCN1A variants from bench to bedside — improved clinical prediction from…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 other diseases listed in the…

Mutations in the SCN1A gene and epileptic seizures contribute to disease severity in a mouse model of Dravet syndrome, a study reports. The study, “A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies,” was published in Neurobiology of Disease. Dravet syndrome…

Shayne Turpin experienced his first seizure at the age of seven months. His parents were told it was a febrile seizure — an isolated event — that would probably not happen again. But it did, over and over again. Besides experiencing 40 to 50 tonic-clonic, hemiclonic,…