Dystonia in Angelman syndrome: a common, unrecognized clinical finding.

Introduction: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive disability, speech impairment, hyperactivity and seizures. Movement disorders have been reported in almost all AS subjects and they are described as "tremulous movements of limbs, unsteadiness, clumsiness or quick, jerky motions". The presence of dystonia has barely been mentioned in subjects with AS and has never been studied in detail.

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome.

Objective: The clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.

Methods: We performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus.

Need for a standardized technique of nap EEG recordings: results of a national online survey in Italy.

The aim of this study is to report current clinical practice for sleep induction in Italian epilepsy centers. We administered an online-structured survey between March and November 2017 and collected data from pediatric and adult neurophysiologists belonging to 73 epilepsy centers. The preferred time for EEG recording is variable, depending on daily schedule of each laboratory.

Diagnostic Biomarkers of Epilepsy.

Background: Diagnostic biomarkers of epilepsy are objectively measurable variables associated with the development of epilepsy or the propensity to generate seizures. Identification of biomarkers could be helpful for differential diagnosis and for tailored therapeutic approaches.

Objective: This review focuses on diagnostic biomarkers of epilepsy, including genetic, serological, neuroimaging and electrophysiological variables.

Migraine causes retinal and choroidal structural changes: evaluation with ocular coherence tomography.

Few studies have evaluated whether the retina is involved in migraine through the evaluation of retinal nerve fiber layer (RNFL) examined with ocular coherence tomography (OCT) with conflicting results. Aim of this case-control study is to evaluate the retina and the choroid in migraine. Patients having migraine with aura (MwA) or without aura (MoA) and chronic migraine (CM) were evaluated.