Publications by authors named "Roberta Criscione"
Background: Autosomal dominant mutations of the gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). This systematic review aims to identify the best reported therapy for these patients, relating to phenotype, neurodevelopmental outcome, and an eventual correlation between phenotype and genotype.
Methods: We searched on PubMed using the search terms "" AND "therapy" and "" AND "treatment"; we found 304 articles.
Background And Aim: Neonatal stroke is the second cause of acute symptomatic neonatal seizures after hypoxic-ischemic encephalopathy. The aim of this systematic review is to determine which drug among those available represents the best therapeutic choice for treatment of secondary seizures due to neonatal stroke.
Methods: We performed a systematic review searching on PubMed the keywords "Neonatal", "Stroke", "Seizures" and "Treatment".
Article Synopsis
- * Among those with CHD, the most common issues included pulmonary valve stenosis/dysplasia, mitral valve anomalies, and septal defects, with a notable correlation to specific genetic mutations, particularly non-truncating intragenic mutations.
- * The findings suggest a significant association between these mutations and the presence of CHD, especially pulmonary valve stenosis, indicating that many patients with these heart defects also show features similar to Noonan syndrome.