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

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.

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 ...

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 ...

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 ...

What is Juvenile Myoclonic Epilepsy? Juvenile myoclonic epilepsy (JME) is an epileptic condition that develops in children and adolescents, invariably between the ages of 8 and 26 with most of the ...

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 ...