Epileptic spasms are a type of brief seizures that are the hallmark of catastrophic seizure disorders, which are characterized by severe cognitive and motor deficits. While common in West syndrome (or infantile spasms), these spasms can occur in people of any age group. Very little is known about the underlying neurophysiological mechanisms and the neuronal circuit(s) responsible for the generation of these spasms.
On April 10, 2018, the Food and Drug Administration (FDA) approved everolimus tablets for oral suspension (brand name: Afinitor Dispersz, Novartis Pharmaceuticals Corporation) as an adjunctive therapy to treat partial-onset refractory seizures in adults and children over 2 years of age with Tuberous Sclerosis Complex (TSC). Tuberous Sclerois isa genetic disorder that affects one million people worldwide and is characterized by benign tumors in several organs, epilepsy, behavioral problems and intellectual disability.
The Foundation for Angelamn Syndrome Therapeutics (FAST) launches a new biotech, GeneTx Biotherapeutics LLC (GeneTx), a subsidiary of FAST, for the development and commercialization of an investigational antisense drug, GTX-101, for the treatment of Angelman syndrome (AS), a rare genetic disorder characterized by epilepsy, impaired motor function and speech delays. Read More
Dr. Anne Anderson, epileptologist at Texas Children's Hospital and investigator at the Cain Labs and Jan and Dan Duncan Neurological Research Institute. Read the blog posted on the Foundation for Angelman Syndrome Therapeutics website that describes Dr. Anderson's latest research findings on Angelman syndrome.