Progressive myoclonus epilepsy syndromes comprise a heterogeneous group of inherited neurological disorders characterised by the combination of myoclonic jerks, generalised tonic–clonic seizures and ...

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 ...

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 ...

Myoclonus refers to brief, involuntary twitching of muscles and it is the most disabling and progressive drug-resistant symptom in patients with progressive myoclonus epilepsy type 1 (EPM1). It is ...

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.

Significant funding from Business Finland to a unique ecosystem concept, bringing together high-level academic research and industry. The ”New Modalities Ecosystem” focuses on rare diseases of the ...

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 ...

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 ...

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 ...

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 ...