Understanding the genetic architecture of metabolic epilepsies is of paramount importance,
both to current clinical practice and for the identification of further research directions. The …

Neonatal seizures (NS) occur in the first 28 days of life; they represent an important
emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most …

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The
application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal …

A bibliometric analysis of research papers in venture capital reveals an increasing interest
over time by researchers across a broad spectrum of business disciplines. It also reveals the …

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading
as other disorders, most commonly as neonatal encephalopathy and seizures …

More than 650 inherited metabolic diseases may present with epilepsy or seizures. These
diseases are often multisystem, life-long and induce complex needs of patients and families …

Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene,
is an autosomal recessive disease manifesting with early onset seizures, developmental …

Children require medical attention for various episodic or repetitively occurring events. The
vast majority of these paroxysmal phenomena are nonepileptic, and many are benign or …