Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.
Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants.
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.
View Article and Find Full Text PDFObjective: To assess the relation between coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy.
Methods: Cross-sectional analysis of data collected in the SAVE study, which included patients with drug-resistant focal epilepsy during long-term EEG monitoring. Patients in whom both coffee consumption and data about seizure frequency, including focal to bilateral tonic-clonic seizures (FBTCS), were available were selected.
Purpose: This study aimed to describe the quality of adherence to mental health care follow-up and the mental health caregiver-patient relationship after diagnosis of psychogenic non-epileptic seizures (PNES).
Methods: We conducted an ancillary study of a multicenter prospective study. Patients (n = 108) received a standardized diagnostic explanation of PNES following video-EEG.