Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Although it is well known that the ancestors of modern humans and Neanderthals admixed,
the effects of gene flow on the Neanderthal genome are not well understood. We develop …

Mammals have a dorsal cochlear nucleus (DCN), which is thought to be a cerebellum-like
structure with similar features in terms of structure and microcircuitry to the cerebellum. Both …

Antiepileptic drugs have been successfully treating epilepsy and providing individuals
sustained seizure freedom. However, about 30% of the patients with epilepsy present drug …

Kainate receptors (KARs) are a subtype of ionotropic glutamate receptors that control
synaptic transmission in the central nervous system and are implicated in neurological …

Abstract For> 30 years, the Eilat Conference on New Antiepileptic Drugs and Devices has
provided a forum for the discussion of advances in the development of new therapies for …

Perampanel (PMP) is a third-generation antiseizure drug reported to be a potent and
selective noncompetitive negative allosteric modulator of one subfamily of ionotropic …

Background A major obstacle faced by families with rare diseases is obtaining a genetic
diagnosis. The average" diagnostic odyssey" lasts over five years and causal variants are …

Mesial temporal lobe epilepsy (mTLE) is the most prevalent type of epilepsy in adults. First
and subsequent generations of anti-epileptic therapy regimens fail to decrease seizures in a …