Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg ...

Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early ...

An international research consortium has discovered a new gene underlying progressive myoclonus epilepsy, one of the most devastating forms of epilepsy. The study showed that a single mutation in a ...

Background. A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

A new study shows that wearable sensor technology can be used to reliably assess the occurrence of myoclonic jerks in patients with epilepsy also in the home environment. A new study by the University ...

STEVENAGE, England--(BUSINESS WIRE)--Autifony Therapeutics Limited (“Autifony”), which is pioneering the development of novel pharmaceutical treatments for rare CNS disorders and other serious brain ...

J Child Neurol. 2004;19(8):571-578. Patients with an isolated visually induced seizure in special circumstances, with or without a photoparoxysmal response on the EEG. This group comprises patients ...

Fast, reliable and automatic assessment of the severity of myoclonic jerks from video footage is now possible, thanks to an algorithm using deep convolutional neural network architecture and ...

BERWICK, Maine — Zack Weinberger is a 16-year-old, bushy-haired boy who likes spicy food and drawing with his younger sister. He has a loving family and a wicked sense of humor, but he also has ...

A study led by researchers at University of Helsinki, Finland and Universities of Melbourne and South Australia has identified a new gene for a progressive form of epilepsy. The findings of this ...

A new study by the University of Eastern Finland and Kuopio University Hospital shows that wearable sensor technology can be used to reliably assess the occurrence of myoclonic jerks in patients with ...