BURNOUT IS A SYNDROME DEFINED BY THE 3 PRINCIPAL COM-ponents of emotional
exhaustion, depersonalization, and diminished feelings of personal accomplishment. 1 Unlike …

CLINICAL TRIALS ARE THE PRIMARY MEANS TO EVALUATE THE efficacy and safety of
new drugs and other medical technologies. When published in peer-reviewed journals, the …

Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy
with few known etiologies. We sought to identify a novel cause of MMPEI in a child …

Rationale: Voltage-gated sodium channels initiate action potentials in excitable tissues. Mice
in which Scn5A (the predominant sodium channel gene in heart) has been knocked out die …

Frequent mutation of PI3K/AKT/mTOR signaling pathway genes in human cancers has
stimulated large investments in targeted drugs but clinical successes are rare. As a result, many …

BACKGROUND: Left ventricular hypertrophy is a known risk factor for atrial fibrillation (AF).
However, it is not well understood whether other electrocardiogram abnormalities are …

Background Action potential generation in excitable cells such as myocytes and neurons
critically depends on voltage-gated sodium channels. In mammals, sodium channels exist as …

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular
etiology of many cases remains unknown. Patients with these undiagnosed disorders often …

Embryonic organs attain their final dimensions through the generation of proper cell number
and size, but the control mechanisms remain obscure. Here, we establish Gridlock (Grl), a …

Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly
results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from …