Clinical spectrum of -related epileptic disorders.

Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to , encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants.

Methods: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases.

A pilot study of hot-wire, ultrasonic and wedge-bellows spirometer inter- and intra-variability.

Objective: The aim of this pilot study was to compare spirometric values obtained with different types of spirometers, spirometers of same type, and repeated measurements with the same spirometer in a pulmonary function laboratory setting.

Results: 12 healthy volunteers performed spirometry on four hot-wire (SensorMedics), two ultrasonic (Spirare) and one wedge-bellows (Vitalograph S) spirometers, according to ATS/ERS (American Thoracic Society/European Respiratory Society) guidelines. Spirometric values were compared using linear mixed models analysis with a random intercept for subjects and a fixed effect for type of spirometer used.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood.