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 …

… b, Integrated genetic linkage map of the q21–25 region of chromosome 1. The relative
positions of the loci APO42, D1S104, D1S61, AT3, LAMB and F13B were derived from the NIH/ …

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

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 (…

… b, A typical conductance step observed when a DNA molecule enters the nanopore. This
conductance step corresponds to a zoom of event 2 from a. c, Histogram of 34 conductance …

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 3,699 controls (…

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 …

Heterozygous protein C deficiency is associated with an increased risk for thrombosis. This
association is restricted to a minority of protein C-deficient families, which have been defined …

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

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …