Search

Objective: We studied the electrographic features of tonic seizures (TS) with bilateral contraction and tonic-clonic seizures (TCS) without focal signs occurring during the first year of life to evaluate if there is a correlation with outcome., Methods: We retrospectively reviewed patients aged 1 to 12 months with at least one TS or TCS recorded with video-EEG between 2011 and 2021 in our Epilepsy Monitoring Unit. We analyzed the following electrographic features: seizure duration, presence and duration of focal ictal EEG onset, and post-ictal generalized EEG suppression (PGES). Among clinical variables, we collected age at epilepsy onset, age at TS and TCS recording, response to anti-seizure medications, genetic and neuroimaging findings, epileptic syndrome classification., Results: Overall, we recorded 2577 seizures in 1769 patients. One-hundred-twenty-eight seizures (5%) were clinically labeled either as TS or TCS in 41 patients (2%). Out of 41 patients, 17 (41%) presented with TS, and 24 (59%) with TCS. Thirteen patients (32%) had a Self-limited Epilepsy, and 28 (68%) a Developmental and Epileptic Encephalopathy (DEE). Seventy-two percent of genetically tested patients had pathogenic gene variants. None had structural epilepsy. Mean age at epilepsy onset was 4.48 months (range 3 days-12 months). Age at seizure onset was earlier in patients presenting with TS versus patients presenting with TCS (2.31 months vs. 6.01 months; p = 0.001) and in DEEs versus Self-limited Epilepsies (3.23 months vs. 7.16 months; p = 0.001). TS were exclusively present in DEEs (p = 0.001), and TCS were recorded in both DEEs and Self-limited Epilepsies. Focal ictal EEG onset was evident in 92 % of TCS, and in none of TS. Generalized ictal EEG onset was documented in 100 % of TS, and in 8 % of TCS. Focal ictal EEG onset occurred more frequently (100 % vs. 32 %; p = 0.000) and was significantly longer (30.61 s vs. 16.22 s; p = 0.020) in Self-limited Epilepsies versus DEEs. PGES was observed in 18 out of 41 (44 %) and was more frequent in Self-limited Epilepsies (p = 0.026)., Significance: This study provides insights into the electroclinical features of TS and TCS in infants that may help distinguish Self-limited Epilepsies from DEEs soon after epilepsy onset., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objectives: In recent years, adjunctive therapies for epilepsy management are being explored due to considerable side effects carried by antiepileptic drugs (AEDs) and widespread reports of drug-resistant epilepsy. One such approach is non-invasive musical neurostimulation. Within this context, Mozart's sonata K448 has received particular attention following reports of reduced seizure frequency and a decrease in epileptiform discharges during and after music exposure; often described as the 'Mozart effect'. However, controversy exists around the effectiveness of K448 in epilepsy and the strength and quality of the evidence supporting it. Therefore, this study aims to systematically review the available literature around the Mozart effect, in both adult and paediatric cases of epilepsy., Methods: We carried out a literature search on PubMed, Science Direct, Scopus and Web of Science using the query string ALL= (Mozart AND epileps*). Selected clinical studies were classified based on the age of the population studied, as paediatric (0-18 years), adult (19 years or older) or a combination of the two. All the studies were evaluated using the Johns Hopkins Nursing Evidence-Based Practice (JHNEBP) rating scale to determine the strength of the evidence (level) and the quality of the research evidence., Results: Out of 538 records, 25 studies were selected, grouped based on the age of the population studied and evaluated using the JHNEBP rating scale. Ten level 1 studies, which represent the strongest evidence, were identified, including six RCTs and three meta-analyses. Nine of these ten studies show a decrease in epileptiform discharges and in seizure frequency following exposure to Mozart's K448. One multiverse analysis reported lack of statistically significant evidence to support the use of K448 in epilepsy or any other medical condition., Conclusions: A growing body of evidence supports the Mozart effect on epilepsy, with notable studies including RCTs and comprehensive meta-analyses. This review identified nine level 1 studies, conducted by research groups worldwide, which endorse the use of Mozart's music to reduce seizures and epileptiform discharges in adult and paediatric epilepsy patients. However, existing research exhibits limitations like varying protocols, small sample sizes and diverse treatment regimens. Additionally, studies that combine adult and paediatric patients fail to take account of developmental differences between these two groups - particularly with regards to brain maturation and neurophysiology - which could negatively impact upon the accuracy of findings by obscuring important age-related differences in response to intervention. Adequately addressing these limitations will be crucial to demonstrating proof of concept; otherwise, a potentially valuable, non-invasive, accessible, and affordable therapeutic option for drug-resistant epilepsy will remain on the medical fringe. Further research with larger samples and stricter protocols, particularly considering patient age and drug regimens, is required., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Epileptic Spasms (ES) is a type of seizure usually occurring in the context of a severe childhood epileptic syndrome associated to significant Electroencephalogram (EEG) abnormalities. There are three scenarios in which ES may occur. The first one is represented by West Syndrome (WS): ES occur in a previously non encephalopathic infant in association with the development of a hypsarrhythmic EEG pattern. In most cases, standard treatment with Adrenocorticotropic Hormone (ACTH), steroids or vigabatrin leads to a reversal of the electroclinical picture. The second scenario is represented by Developmental and Epileptic Encephalopathies (DEEs): ES are documented, often along other seizures types, in an infant who often shows developmental delay since birth; the EEG pattern is pathological both in wakefulness and in sleep, without typical features of hypsarrhythmia; therapies (with the exception of few potentially treatable syndromes) are poorly effective. The last scenario is represented by ES in the context of Focal Epilepsies (FEs): ES, sometimes showing focal signs or closely related to focal seizures, are associated with focal brain lesions. Treatment with ACTH, steroids or vigabatrin may not be effective as well as antiepileptic drugs for focal epilepsies. In drug-resistant patients, surgery should be considered. Although there are some gaps in our current scientific knowledge concerning the peculiar electroclinical and physiopathological features of ES, we nowadays possess the necessary tools to correctly frame this unique seizure type into one of these scenarios and therefore properly manage the diagnostic and therapeutic workup., Competing Interests: Declaration of Competing Interest None of the authors have any conflicts of interest to declare., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resistant epilepsy, and, through an extensive review of literature, highlight those epileptological features which are more commonly found and which may help in early diagnosis, genetic counseling, and treatment. Epilepsy onset in r(14) syndrome takes place during the first year of life; seizures are generalized or focal and less frequently myoclonic. Seizures might be induced by fever. Focal seizures are characterized by staring, eye or head deviation, respiratory arrest, swallowing, and hypertonia/hypotonia or clonic movements. Ictal EEG might show both focal and diffuse discharges. Interictal EEG reveals mainly focal abnormalities. Mental retardation represents a constant feature. Neurological assessment yields a delay in motor skill acquisition and less frequently both pyramidal and cerebellar signs. Dysmorphic features are evident in the majority of cases. Epilepsy associated with r(14) has many features that entail a challenging diagnostic process. The reported cases of r(14)-related epilepsy seem to highlight a series of common elements which may be helpful in pointing the clinician towards a correct diagnosis., (Copyright © 2012 Elsevier Inc. All rights reserved.)