Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …

Most patients with epilepsy report that seizures are sometimes, or exclusively, provoked by
general internal precipitants (such as stress, fatigue, fever, sleep, and menstrual cycle) 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 …

Epilepsy is heritable, yet few causative gene mutations have been identified, and thus far no
human epilepsy gene mutations have been found to produce seizures in invertebrates. Here …

One quadrillion synapses are laid in the first two years of postnatal construction of the
human brain, which are then pruned until age 10 to 500 trillion synapses composing the …

Purpose: Patients with juvenile myoclonic epilepsy (JME) show evidence of microstructural
white matter (WM) damage of thalamocortical fiber tracts and changes of blood oxygen level …

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting
the long bones and skull. The cause of FMD in some individuals is gain-of-function …

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 …