Publications by authors named "M M Mancardi"
Article Synopsis
- - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
- - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
- - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
Article Synopsis
- - The transition from pediatric to adult care for epilepsy is complex and involves multiple stakeholders, essential for providing high-quality care and preventing negative outcomes in young patients.
- - The study aimed to address the challenges and needs in this transition process from the perspective of adult neurologists through a survey assessing their views on the issue.
- - Results indicate that adult neurologists find the transition challenging and recommend a collaborative approach between child and adult neurologists, along with better training in childhood epilepsy.
Subclinical rhythmic electrographic discharge of adults (SREDA) is one of the rarest and most challenging non-epileptic electroencephalographic variants. Although the pathogenesis of this activity is unclear, an association with vascular insufficiency and cerebral hypoxia has been proposed. SREDA usually occurs in adulthood, but there are few reports in the pediatric population.
View Article and Find Full Text PDFObjective: 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.
Article Synopsis
- The study investigates long-term epilepsy outcomes in pediatric patients who experienced acute central nervous system complications during hematopoietic cell transplantation (HCT).
- Data was collected from 94 patients, revealing that common acute complications included posterior reversible encephalopathy syndrome and infections, with a notable incidence of acute symptomatic seizures.
- Findings indicate that 9.6% of patients were diagnosed with long-term epilepsy, especially those who experienced acute symptomatic status epilepticus, highlighting the need for specialized neurological follow-up in these cases.