P. Riguzzi
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View article: Causes of hospitalization and mortality in persons with epilepsy: The <scp>EpiLink</scp> Bologna cohort, Italy
Causes of hospitalization and mortality in persons with epilepsy: The <span>EpiLink</span> Bologna cohort, Italy Open
Background Epilepsy significantly impacts on morbidity and mortality. Understanding hospitalization and mortality risks in persons with epilepsy (PWE) is essential for improving healthcare strategies. We aimed to investigate the risk and c…
View article: <scp>CASPR2</scp>‐related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males
<span>CASPR2</span>‐related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males Open
Objective The aim of this study was to describe the clinical features of contactin‐associated protein‐like 2 (CASPR2)‐IgG‐associated seizures. Methods Nine patients were retrospectively collected from two epilepsy centers. For each patient…
View article: <i>IRF2BPL</i> as a novel causative gene for progressive myoclonus epilepsy
<i>IRF2BPL</i> as a novel causative gene for progressive myoclonus epilepsy Open
IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent w…
View article: Risk of hospitalization and death for <scp>COVID</scp>‐19 in persons with epilepsy over a 20‐month period: The <scp>EpiLink</scp> Bologna cohort, Italy
Risk of hospitalization and death for <span>COVID</span>‐19 in persons with epilepsy over a 20‐month period: The <span>EpiLink</span> Bologna cohort, Italy Open
Objective Data on COVID‐19 outcomes in persons with epilepsy (PWE) are scarce and inconclusive. We aimed to study the risk of hospitalization and death for COVID‐19 in a large cohort of PWE from March 1, 2020 to October 31, 2021. Methods T…
View article: Progressive Myoclonus Epilepsies
Progressive Myoclonus Epilepsies Open
The application of NGS technology to unsolved patients with PME has revealed a collection of very rare genetic causes. Pathogenic variants were detected in both established PME genes and in genes not previously associated with PME, but wit…
View article: Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation Open
Aims . Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. Methods . We studied t…
Myoclonus epilepsy and ataxia due to <span><i>KCNC</i></span><i>1</i> mutation: Analysis of 20 cases and <span>K</span><sup>+</sup> channel properties Open
Objective To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. Methods…