Airway epithelial barrier dysfunction is frequently observed in asthma and may have
important implications. The physical barrier function of the airway epithelium is tightly …

Genetic factors are now recognised to have an even more important role in epilepsies than
previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and …

Eczema often precedes the development of asthma in a disease course called the 'atopic
march'. To unravel the genes underlying this characteristic pattern of allergic disease, we …

It is just over a decade since the discovery of the first human epilepsy associated ion
channel gene mutation. Since then mutations in at least 25 different genes have been …

While epidemiological data suggest a female prevalence in human childhood-and
adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in …

Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the
most common of genetic generalized epilepsy syndromes. JME is characterized by …

Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the
most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle …

Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common
form of generalized epilepsy of presumed genetic origin representing up to 10% of all …

Purpose: EFHC1 variants are the most common mutations in inherited myoclonic and grand
mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). We …

Mutations in EFHC1 gene have been previously reported in patients with epilepsies,
including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is …