An international workshop on juvenile myoclonic epilepsy (JME) was conducted in Avignon,
France in May 2011. During that workshop, a group of 45 experts on JME, together with one …

Abstract ACTIVATED protein C (APC) is a serine protease with potent anti-coagulant
properties, which is formed in blood on the endothelium from an inactive precursor1. During …

Aims. In recent years, many different DNA mutations underlying the development of
refractory epilepsy have been discovered. However, genetic diagnostics are still not …

Background A third of people with juvenile myoclonic epilepsy (JME) are drug-resistant.
Three-quarters have a seizure relapse when attempting to withdraw anti-seizure medication …

Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …

Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and
internal organs that leads to profound disability and premature death. To identify new SSc …

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by
dangerously low body weight. Neither candidate gene studies nor an initial genome-wide …

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder
characterised by vascular malformations in multiple organ systems, resulting in …

Celiac disease is probably the best-understood immune-related disorder. The disease
presents in the small intestine and results from the interplay between multiple genes and …