Publications by authors named "R Epifanio"
Article Synopsis
- Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare genetic disorder characterized by early-onset epilepsy and intellectual disabilities, linked to mutations in a specific gene related to neuronal growth and communication.
- A study involving nine patients with POBINDS utilized advanced genetic sequencing to analyze their clinical data, revealing various symptoms including epilepsy, intellectual disabilities, and other abnormalities, along with discovering six new gene mutations not previously documented.
- While the study couldn’t establish a direct correlation between the type of mutations and specific symptoms, it contributed to a better understanding of the diverse ways POBINDS can manifest.
Objective: We explored the efficacy and safety of lacosamide combined with inhibitors of fast-inactivated sodium channels or with other antiepileptic drugs, in patients with drug refractory focal epilepsy associated with intellectual or psychiatric disability.
Methods: Observational study of lacosamide including the monitoring of lacosamide trough plasma levels and of electroencephalograms.
Results: We followed up 44 patients from the start of lacosamide therapy for up to 3 years, with a clinical, electroencephalogram (EEG), and pharmacological follow-up.
Article Synopsis
- Pathogenic variants of the gene (MIM 182390) are linked to various epileptic syndromes, ranging from mild seizures in infants to severe epileptic encephalopathy, with five patients showcasing diverse clinical features.
- Among the patients studied, four had identifiable gene variants while one had a hereditary variant from a carrier father, with two diagnosed with neonatal epileptic encephalopathy and three presenting focal syndromes related to autism or intellectual disabilities.
- The findings suggest that neurological impairments may be more influenced by the specific mutation rather than just the severity of epilepsy, underscoring the need for genetic screening in individuals with intellectual disabilities or autism, with or without epilepsy.
Background: Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population.
Methods: Forty-individuals with a genetically confirmed diagnosis were enrolled.
Purpose: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with MEF2C haploinsufficiency.
Methods: We thoroughly investigated 25 patients with genetically confirmed MEF2C-syndrome across 12 different European Genetics and Epilepsy Centers, focusing on the epileptic phenotype.