Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome.

Background: In 1978, Charlotte Dravet first described a form of epilepsy termed Dravet syndrome (DS). It is a form of genetic epilepsy with early-onset, intractable epilepsy episodes, and neurodevelopmental delay. In children, DS can lead to refractory seizures that are resistant to standard therapy.

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management.

Analyze the treatment modalities used in real practice by synthesizing available literature. We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the form of line charts and illustrated graphs.

Sickle cell nephropathy: A review of novel biomarkers and their potential roles in early detection of renal involvement.

Whether the underlying mutations are homozygous, heterozygous, or co-inherited with other hemoglobinopathies, sickle cell disease is known to afflict the kidneys, leading to the clinical entity known as sickle cell nephropathy (SCN). Although common, SCN remains diagnostically elusive. Conventional studies performed in the context of renal disorders often fail to detect early stage SCN.