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.

Perampanel Confirms to Be Effective and Well-Tolerated as an Add-On Treatment in Patients With Brain Tumor-Related Epilepsy (PERADET Study).

Epilepsy is one of the most common symptoms of brain tumors. It is often drug resistant and generally worsen patients' quality of life (QoL). Brain tumors release glutamate among other mediators, contributing to seizures onset, and this is accompanied by an increased AMPA receptors' expression on neuronal cells' membrane.

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.

Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?

Purpose: Gluten-related disorders (GRDs) are a group of immune-mediated diseases often associated to neurologic manifestations. Epilepsies with cerebral calcifications, with or without coeliac disease (CD), are rare neurological disorders characterized by childhood-onset focal seizures, often refractory to antiepileptic drugs. Transglutaminase 6 antibodies (anti-TG6) have been considered a biomarker for gluten-related ataxia and neuropathy, but their prevalence in epilepsies with cerebral calcifications is unknown.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Perampanel (PER) is a novel anti-seizure medication useful in different types of epilepsy. We intended to assess the effectiveness of PER on cortical myoclonus and seizure frequency in patients with progressive myoclonus epilepsy (PME), using quantitative validated scales. Forty-nine patients aged 36.

Hypertension, seizures, and epilepsy: a review on pathophysiology and management.

Background: Epilepsy and hypertension are common chronic conditions, both showing high prevalence in older age groups. This review outlines current experimental and clinical evidence on both direct and indirect role of hypertension in epileptogenesis and discusses the principles of drug treatment in patients with hypertension and epilepsy.

Methods: We selected English-written articles on epilepsy, hypertension, stroke, and cerebrovascular disease until December, 2018.

Management of psychogenic non-epileptic seizures: a multidisciplinary approach.

The International League against Epilepsy (ILAE) proposed a diagnostic scheme for psychogenic non-epileptic seizure (PNES). The debate on ethical aspects of the diagnostic procedures is ongoing, the treatment is not standardized and management might differ according to age group. The objective was to reach an expert and stakeholder consensus on PNES management.

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.

Seizures with Migraine-like Attacks after Radiation Therapy (SMART): A new meaning of an old acronym.

Stroke-like migraine attacks after radiation therapy (SMART) is a late-onset complication of cerebral irradiation, clinically characterized by headache, seizures and focal deficits. We describe two patients with SMART presenting with focal status epilepticus and headache. We believe that SMART is a misnomer that misjudge seizures among clinical features and we suggest to rename this entity as " Seizure with Migraine-like Attacks after Radiation Therapy".

Epileptogenic role of occult temporal encephalomeningocele: Case-control study.

Objective: The purpose of this case-control study is to evaluate the prevalence of occult temporal encephalomeningocele (OTE) in patients with temporal lobe epilepsy (TLE) of unknown etiology presenting to an epilepsy center, independently from drug sensitivity.

Methods: We studied 95 patients with TLE (51 female, mean age 49.4 ± 17.

Information Theoretic-Based Interpretation of a Deep Neural Network Approach in Diagnosing Psychogenic Non-Epileptic Seizures.

The use of a deep neural network scheme is proposed to help clinicians solve a difficult diagnosis problem in neurology. The proposed multilayer architecture includes a feature engineering step (from time-frequency transformation), a double compressing stage trained by unsupervised learning, and a classification stage trained by supervised learning. After fine-tuning, the deep network is able to discriminate well the class of patients from controls with around 90% sensitivity and specificity.

A commercially available device suppresses photic driving: implications for EEG recording.

Intermittent photic stimulation (IPS) is an activation procedure routinely performed during EEG. The EEG response may consist in physiological photic driving (PPD) or in photoparoxysmal response (PPR). Sometimes, the distinction between PPR and PPD can be challenging, especially in case of PPR limited to posterior regions (Waltz type 1 or 2).

Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients.

Objective: Actual knowledge on evolution of Angelman syndrome (AS) relies on questionnaire-based cohort studies, phone interviews, or small retrospective cohort studies focused on specific clinical-genetic features. These reports provide conflicting results. The aim of this study was to assess the long-term outcome of epilepsy, sleep disorders, and EEG in a vast series of AS subjects.

Methodological issues associated with clinical trials in epilepsy.

despite methodological advances in epilepsy clinical trials, the proportion of patients reaching seizure-freedom has not substantially changed over the years. We review the main methodological limitations of current trials, the possible strategies to overcome these limits, and the issues that need to be addressed in next future. Area covered: references were identified by PubMed search until March 2017 and unpublished literature was searched on ClinicalTrials.

Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis.

The role of different factors in influencing the risk of seizures during multiple sclerosis (MS) is not known. To perform a systematic review and meta-analysis of risk factors for epilepsy during MS. Pubmed, Google scholar, and Scopus databases were searched.

The Natural History of Epilepsy in 163 Untreated Patients: Looking for "Oligoepilepsy".

Unlabelled: The clinical evolution of untreated epilepsy has been rarely studied in developed countries, and the existence of a distinct syndrome characterized by rarely repeated seizures (oligoepilepsy) is debated. The aim of this study is to assess the natural history of 163 untreated patients with epilepsy in order to evaluate whether oligoepilepsy retains specific features. We retrospectively evaluated 7344 patients with ≥2 unprovoked seizures.

Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia.

A novel technique of quantitative EEG for differentiating patients with early-stage Creutzfeldt-Jakob disease (CJD) from other forms of rapidly progressive dementia (RPD) is proposed. The discrimination is based on the extraction of suitable features from the time-frequency representation of the EEG signals through continuous wavelet transform (CWT). An average measure of complexity of the EEG signal obtained by permutation entropy (PE) is also included.

Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta-analysis of risk factors.

Objective: Seizures may occur in close temporal association with a stroke or after a variable interval. Moreover, epilepsy is often encountered in patients with leukoaraiosis. Although early post-stroke seizures have been studied extensively, less attention has been paid to post-stroke epilepsy (PSE) and to epilepsy associated with leukoaraiosis (EAL).