Publications by authors named "V Sciruicchio"
Headaches represent a common and debilitating neurological disorder among the pediatric population [...
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- The study focuses on two siblings who inherited two new variants (N935Y and H1393Q) in the Nav1.1 sodium channel, leading to a drug-responsive neurological condition while their parents remain asymptomatic.
- Most variants in this channel are usually inherited heterozygously, but in this case, both siblings express a biallelic (two copies) inheritance pattern.
- Functional analyses of sodium currents show that these variants reduce channel activity by about 20%, potentially contributing to their illness, but also suggest that other factors could play a role in the disease's development.
Autonomic symptoms may be local and general clinical manifestations of both epilepsy and migraine caused by the dysfunction of brain areas best known as the central autonomic network. Despite their prevalence, autonomic signs are often misdiagnosed and their treatment is undervalued. This review aims to describe the autonomic manifestations reported during seizures and migraineur attacks according to their presentation, focusing on the role of the central autonomic network (CAN) and on the parasympathetic outflow that often-induced cranial autonomic symptoms (CAS) during migraineur attacks.
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- GM3 synthase deficiency (GM3SD) is linked to mutations in the ST3GAL5 gene, leading to severe symptoms like irritability, feeding issues, seizures, and hearing loss in infants.
- Researchers created and studied a human induced pluripotent stem cell (hiPSC) line from a 13-year-old girl with GM3SD who had two new genetic variants in the ST3GAL5 gene.
- The hiPSC line possesses a normal chromosome structure, expresses markers indicating pluripotency, and can develop into the three primary cell types in the body.
Article Synopsis
- Primary stabbing headache (PSH) is characterized by brief, localized head pain and was studied in 60 children to understand its characteristics and compliance with ICHD-3 criteria.
- Patients had a median onset age of 8 years and showed a variability in pain duration, with a notable association of PSH to familial migraine history and other episodic syndromes.
- Results suggested that PSH in children may require redefining or adjusting the ICHD-3 criteria, as many children experienced longer stabbing durations and a notable prevalence of co-existing primary headaches.