Single Seizure Research Articles

Allopregnanolone and progesterone in relation to a single electroconvulsive therapy seizure and subsequent clinical outcome: an observational cohort study

BackgroundElectroconvulsive therapy (ECT) is an important treatment for several severe psychiatric conditions, yet its precise mechanism of action remains unknown. Increased inhibition in the brain after ECT seizures, mediated by γ-aminobutyric acid (GABA), has been linked to clinical effectiveness. Case series on epileptic patients report a postictal serum concentration increase of the GABAA receptor agonist allopregnanolone. Serum allopregnanolone remains unchanged after a full ECT series, but possible transient effects directly after a single ECT seizure remain unexplored. The primary aim was to measure serum concentrations of allopregnanolone and its substrate progesterone after one ECT seizure. Secondary aims were to examine whether concentrations at baseline, or postictal changes, either correlate with seizure generalization or predict clinical outcome ratings after ECT.MethodsA total of 130 participants (18–85 years) were included. Generalization parameters comprised peak ictal heart rate, electroencephalographic (EEG) seizure duration, and prolactin increase. Outcome measures were ratings of clinical global improvement, perceived health status and subjective memory impairment. Non-parametric tests were used for group comparisons and correlations. The prediction analyses were conducted with binary logistic and simple linear regression analyses.ResultsAllopregnanolone and progesterone remained unchanged and correlated neither with seizure generalization nor with clinical outcome. In men (n = 50), progesterone increased and allopregnanolone change correlated negatively with EEG seizure duration. In a subgroup analysis (n = 62), higher baseline allopregnanolone and progesterone correlated with postictal EEG suppression.ConclusionsECT seizures have different physiologic effects than generalized seizures in epilepsy. Progesterone might have implications for psychiatric illness in men.

Utility of CT perfusion in seizures and rhythmic and periodic patterns

ObjectiveCT hyper-perfusion has been reported in non-convulsive status epilepticus (NCSE), while its occurrence and relevance after single seizures or with rhythmic and periodic patterns (RPPs) that lie along the ictal-interictal continuum (IIC), remain unclear. The goal of the study is to assess the role of CT perfusion (CTP) in diagnosing patients with clinical seizures, subclinical seizures, or RPPs that lie along the IIC, to help in the clinical assessment of these entities. MethodsWe retrospectively reviewed inpatients who underwent a CTP and an EEG within 6 h of each other. CTP and EEGs were blindly reviewed independent of electronic medical records. ResultsOut of 103 patients, 15 patients (15 %) demonstrated hyper-perfusion, 40 patients (39 %) had hypo-perfusion, while 48 patients (47 %) had normal CTP. Patients with focal CTP hyperperfusion were more likely to have clinical seizures, electrographic seizures, and/or lateralized rhythmic periodic patterns (RPPs) compared to those without CTP hyperperfusion. Focal CTP hyper-perfusion had 34 % sensitivity and 96 % specificity for identifying patients with clinical seizures, and a 40 % sensitivity and 92 % specificity for identifying patients with electrographic seizures or lateralized RPP. Although the numbers were small, none of the patients with generalized periodic discharges or generalized rhythmic delta activity had CTP hyper-perfusion. ConclusionsFocal CTP hyper-perfusion has low sensitivity but high specificity for identifying patients with seizures and lateralized RPPs, and may be considered in the clinical assessment of patients where the clinical information are unclear or insufficient. SignificanceThe presence of CTP hyper-perfusion should alert the physician to the possibility of an ictal related etiology accounting for the patient’s symptoms.

Coexistence of epilepsy or seizure and multiple sclerosis; review of the literature with a single center experience

ObjectivesThere is evidence that the inflammatory demyelinating disorder in Multiple Sclerosis (MS) is associated with acute seizures and epilepsy. Additionally, the likelihood of developing epilepsy increases with neurodegeneration. This study aims to reveal the clinical and radiological features of MS-epilepsy/seizure coexistence. MethodsAmong all patients diagnosed with MS that we followed in our center between April 2002 and July 2023, patients with a single seizure history or diagnosed with epilepsy (MS-seizure/epilepsy) were randomized 1:1 in terms of age and gender with MS patients without a diagnosis of epilepsy or seizures. Clinical (comorbidities, annualized relapse rate, disability, seizures during attacks, initial diagnosis, disease duration, disease-modifying therapies (DMTs), refractory epilepsy, anti-seizure drugs), electroencephalography (EEG) and MRI (lesion localization and new lesion(s)) data were retrospectively evaluated. ResultsThe mean EDSS was 4.07±2.81. 29.4 % of patients had progressive MS (n = 10). Refractory epilepsy was 52.9 % (n = 18), and SE history was 14.7 % (n = 5). Pathology was detected in 69.7 % (n = 23) of patients in the EEG. The most common slow wave activation was detected in 51.5 % (n = 17). Refractory epilepsy was more common in cases under 45 and patients with lesions in thalamic localization. Lesions in the temporal and thalamic regions and cerebral atrophy were more common in the MS-seizure/epilepsy group. ConclusionPatients with demyelinating lesions in the temporal and thalamic regions should be questioned more carefully for epilepsy, and an EEG should be performed in case of clinical suspicion. Since thalamus lesions are more common in patients with refractory epilepsy, anti-seizure treatment strategies should be applied more carefully. The presence of atrophy on MRI confirms the link between neurodegeneration processes and the development of epilepsy.

Incidence and pattern of neurological emergencies in Ramadan

ABSTRACT Background The impact of Ramadan fasting on various neurological emergencies remains relatively unexplored. This study aimed to clarify the incidence and pattern of the different neurological emergencies in Ramadan compared to Shaaban. Methods In this cross-sectional study, all adult patients attending the emergency room at two Egyptian centers with neurological emergencies during Shaaban and Ramadan were evaluated. Clinical, laboratory, and radiological assessments were made on an individual basis upon which the diagnosis of neurological disorder was made. IBM SPSS Version 25 was used to analyze the data. Results Seventy-twenty patients were included, 382 during Shaaban and 338 during Ramadan. Among causes of delirium, the frequency of dehydration was significantly higher, and the frequency of illicit drug abuse was significantly lower during Ramadan compared to Shaaban (P = 0.004, 0.030, respectively). The incidence of ICH was significantly reduced during Ramadan compared to Shaaban (10.8% vs 19.7%, P = 0.031). The incidence of cardioembolic strokes significantly increased during Ramadan than Shaaban (40.5% vs 26.4%, P = 0.014), whereas the incidence of small vessel disease (SVD) significantly decreased during Ramadan than Shaaban (21.6% vs. 42.1%, P < 0.001). The incidence of a single seizure was significantly higher in Ramadan than in Shaaban (69.4% vs. 34.6%, P = 0.007). The incidence of functional neurological disorders was significantly reduced in Ramadan than in Shaaban (P < 0.001). Conclusion The incidence of delirium caused by illicit drug abuse, ICH, SVD, and functional neurological disorders declined during Ramadan, while the incidence of delirium triggered by dehydration, cardioembolic strokes, and a single seizure increased during Ramadan.

Intracerebroventricular administration of the exercise hormone irisin or acute strenuous exercise alleviates epileptic seizure-induced neuroinflammation and improves memory dysfunction in rats

BackgroundStatus epilepticus is a common and potentially life-threatening neurological emergency with a high risk for cognitive and neurobiological impairment. Our aim was to evaluate the neuroprotective effects of centrally administered irisin and acute exhausting exercise against oxidative brain injury and memory dysfunction due to a pentylenetetrazole (PTZ)-induced single seizure. Male Sprague Dawley rats with intracerebroventricular (icv) cannulas were randomly divided into intraperitoneally (ip) saline-injected control and PTZ-injected (45 mg/kg) seizure groups. Both the control and PTZ groups were then treated with irisin (7.5 µg/kg, 2 µl, icv), saline (2 µl, icv) or were forced to an acute bout of strenuous exercise before the ip injection of saline (control) or PTZ. Seizures were evaluated using the Racine score. To evaluate memory performance, a passive avoidance test was performed before and after PTZ injection. Following euthanasia at the 24th hour of seizure induction, brain tissues were removed for histopathological examination and for evaluating oxidative damage, antioxidant capacity, and neurotransmitter levels.ResultsGlutamate/GABA imbalance observed in PTZ rats was corrected by irisin administration (p < 0.001/p < 0.01), while irisin prevented the generation of reactive oxygen species and lipid peroxidation (p < 0.05 − 0.001) and replenished the antioxidant catalase and glutathione levels (p < 0.01–0.01) in the cerebral tissue, and reduced the histologically evident neuronal injury due to a single seizure (p < 0.05 − 0.01). Irisin also delayed the onset of seizures (p < 0.05) and improved memory dysfunction (p < 0.05), but did not affect the severity of seizures. The acute exhaustive swimming exercise completed before PTZ-seizure depressed glutamate level (p < 0.001), maintained the oxidant/antioxidant balance, alleviated neuronal injury (p < 0.05 − 0.01) and upregulated cerebral BDNF expression (p < 0.05).ConclusionIn conclusion, acute high-intensity exercise or exogenously administered irisin provides neuroprotection by maintaining the balance of excitatory/inhibitory neurotransmitters and oxidant/antioxidant systems.

Fluoroquinolones and the risk for incidental seizures: a comparative retrospective study.

Over the years, reports have associated fluoroquinolones (FQ) with seizures. The incidence and whether FQ compared to non-epileptogenic antibiotic are associated with increased risk of seizures has yet to be examined. A retrospective observational study of hospitalized patients treated with FQ (ofloxacin, ciprofloxacin, levofloxacin, moxifloxacin) or macrolides (MA: azithromycin or roxithromycin) between January 2009 and January 2021 in a large tertiary academic medical centre. The outcome was the occurrence of a seizure during treatment. The Naranjo scale was used to assess causality between FQ treatment and seizures. Comparative analysis was conducted using propensity score matching to correct for possible bias due to non-random selection, followed by inverse probability weighting (IPW) to estimate the difference in seizure risk between FQ and MA. Overall, 52 722 patients were treated with FQ during a total of 178 982 days. Mean age was 65 (±19) years and 47% were females. Thirty-three patients (0.06%) experienced a seizure, yielding an incidence of 1:5422 treatment days. Causality was deemed probable and possible among 9/33 and 24/33, respectively. The MA group composed of 8522 patients treated during 17 954 treatment days. Mean age was 65 (±21) years, 49% were females. Six (0.07%) patients experienced each a single seizure. IPW estimated OR for seizures among the FQ versus MA group was 1.44 (95%CI 0.59-3.5, P = 0.42). The incidence of FQ associated seizures among hospitalized patients is low and the risk did not significantly exceed that under macrolides. Our results provide evidence for clinicians and decision-makers when balancing fluoroquinolones risks and benefits.

Dravet-like Syndrome with PCDH19 Mutations in Taiwan ― A Multicenter Study

ObjectiveProtocadherin-19 (PCDH19) epilepsy is a rare female restricted epilepsy syndrome with early onset seizures and developmental delay caused by a change or mutation of the PCDH19 gene on the X chromosome. SCN1A-negative patients with a Dravet-like phenotype may have a gene mutation in PCDH19. The aim of this case series was to characterize the phenotype of epileptic patients according to PCDH19 mutations, antiseizure medications, brain images and mutation types in Taiwan. MethodsWe retrospectively reviewed the medical records of patients with PCDH19 epilepsy from July 2017 to December 2021 from multiple centers in Taiwan. We analyzed the patients’ clinical data and genetic reports. ResultsFifteen female patients (age 3 to 23 years) were enrolled. Seizure onset was at 4 months to 2 years 7 months of age with generalized tonic-clonic or focal seizures. Seizure frequency tended to be in clusters rather than single longer seizures. The patients had varying degrees of intellectual disability, however 3 had no impairment. Two patients had abnormal brain images including mesial temporal sclerosis, subcortical and periventricular white matter lesions. On average, the patients received 4 antiseizure medications (range 3–6), including 9 patients who were seizure free, and 3 who received sodium channel blockers without aggravation. Missense and truncating variants (frameshift and nonsense variants) accounted for 40% and 46.7% of all mutations. The mutations of 13 patients were located on EC1 to EC4, and EC5 to cytoplasmic domain in 2 patients. SignificancePCDH19 epilepsy has distinct phenotypes and an unusual X-linked pattern of expression in which females manifest core symptoms. Psychiatric and behavioral problems are frequently part of the clinical picture. Patients are usually treated with a wide array of standard antiseizure medications, with no preferred antiseizure medication class. No strong correlations between phenotype and location of variant mutations were found in our patients.

The course of tumor-related epilepsy in glioblastoma patients: A retrospective analysis

PurposeMany patients with glioblastoma suffer from tumor-related seizures. However, there is limited data on the characteristics of tumor-related epilepsy achieving seizure freedom. The aim of this study was to characterize the course of epilepsy in patients with glioblastoma and the factors that influence it. MethodsWe retrospectively analyzed the medical records of glioblastoma patients treated at the University Hospital Erlangen between 01/2006 and 01/2020. ResultsIn the final cohort of patients with glioblastoma (n = 520), 292 patients (56.2 %) suffered from tumor-related epilepsy (persons with epilepsy, PWE). Levetiracetam was the most commonly used first-line antiseizure medication (n = 245, 83.9 % of PWE). The onset of epilepsy was preoperative in 154/292 patients (52.7 %). 136 PWE (46.6 %) experienced only one single seizure while 27/292 PWE (9.2 %) developed drug-resistant epilepsy. Status epilepticus occurred in 48/292 patients (16.4 %). Early postoperative onset (within 30 days of surgery) of epilepsy and total gross resection (compared with debulking) were independently associated with a lower risk of further seizures. We did not detect dose-dependent pro- or antiseizure effects of radiochemotherapy. ConclusionTumor-related epilepsy occurred in more than 50% of our cohort, but drug-resistant epilepsy developed in less than 10% of cases. Epilepsy usually started before tumor surgery.

Emergency Approach to Acute Seizures in Dogs and Cats.

Seizures are a common presentation seen in small animal practices. Seizures require prompt management including initial interventions for triage, stabilization, and treatment with first-line anticonvulsant (AC) drugs like benzodiazepines. Concurrently, ruling out metabolic or extracranial causes with point-of-care diagnostics can help guide further diagnostics and treatments. Analysis of the history and a physical exam are also necessary to rule out common "look-alikes" that require specific diagnostic workup and treatments. Typically, causes of seizures can be grouped into intracranial and extracranial causes, with the latter being easier to diagnose with commonly available tests. This review presents a systematic approach to the diagnosis and treatment of single seizures, cluster seizures, and status epilepticus in dogs and cats.

Epilepsy as a Novel Phenotype of BPTF-Related Disorders

BackgroundNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL. MethodsWe enrolled individuals with BPTF-related seizures or interictal epileptiform discharges (IEDs) on electroencephalography (EEG). Demographic, clinical, genetic, raw EEG, and neuroimaging data as well as response to antiseizure medication were assessed. ResultsWe studied 11 individuals with a null variant in BPTF, including five previously unpublished ones. Median age at last observation was 9 years (range: 4 to 43 years). Eight individuals had epilepsy, one had a single unprovoked seizure, and two showed IEDs only. Key features included (1) early childhood epilepsy onset (median 4 years, range: 10 months to 7 years), (2) well-organized EEG background (all cases) and brief bursts of spikes and slow waves (50% of individuals), and (3) developmental delay preceding seizure onset. Spectrum of epilepsy severity varied from drug-resistant epilepsy (27%) to isolated IEDs without seizures (18%). Levetiracetam was widely used and reduced seizure frequency in 67% of the cases. ConclusionsOur study provides the first characterization of BPTF-related epilepsy. Early-childhood-onset epilepsy occurs in 19% of subjects, all presenting with a well-organized EEG background associated with generalized interictal epileptiform abnormalities in half of these cases. Drug resistance is rare.

Intravenous Lacosamide Therapy for Pediatric Patients With Cluster Seizures

BackgroundFew studies have investigated intravenous lacosamide use to treat cluster seizures in pediatric patients. Therefore, we aimed to investigate the efficacy and safety of intravenous lacosamide therapy in pediatric patients with cluster seizures. MethodsWe retrospectively evaluated the efficacy and safety of intravenous lacosamide therapy in 25 pediatric patients with cluster seizures at Saitama Children's Medical Center between March 2019 and June 2023. Cluster seizures were defined as a single seizure of less than five minutes duration, repeated three or more times within 12 hours, with recovery of consciousness between seizures. Response was defined as seizure freedom for at least 12 hours after lacosamide infusion. ResultsThe median age at onset of epilepsy was 1.5 (0.0 to 9.8) years. The median seizure frequency was 5 (3 to 20) times per 12 hours. The etiologies were remote (n = 17), acute (n = 4), and progressive (n = 4). The median age at which intravenous lacosamide therapy was administered was 4.2 (0.0 to 11.3) years. The median lacosamide dose was 2.6 (1.3 to 5.2) mg/kg. In total, 12 of 25 patients (48.0%) responded. Among patients treated with intravenous lacosamide as first-line therapy, nine of 17 (52.9%) had complete seizure remission. The frequency of complete seizure remission in patients with remote etiologies was 58.8% (10 of 17); among them, seven of 12 (58.3%) patients with structural abnormalities showed complete seizure remission. No adverse events were observed. ConclusionsIntravenous lacosamide therapy is a potentially useful treatment option for cluster seizures in pediatric patients.

TNF-α: A serological marker for evaluating the severity of hippocampal sclerosis in medial temporal lobe epilepsy?

ObjectiveBy analysing the difference in TNF-α levels in the peripheral blood of patients with medial temporal lobe epilepsy (mTLE) with or without hippocampal sclerosis and the correlation between TNF-α and N-acetylaspartate levels in the hippocampus, we explored the relationship between TNF-α and the degree of damage to hippocampal sclerosis neurons in medial temporal lobe epilepsy. MethodsThis is a prospective, population-based study. A total of 71 Patients with medial temporal lobe epilepsy diagnosed by clinical seizures, video-EEG, epileptic sequence MRI, and other imaging examinations were recruited from October 2020 to July 2022 in the Department of Neurology, Affiliated Hospital of Xuzhou Medical University. Twenty age-matched healthy subjects were selected as the control group. The patients were divided into two groups: the medial temporal epilepsy with hippocampal sclerosis group (positive group, mTLE-HS-P group) and the medial temporal epilepsy without hippocampal sclerosis group (negative group, mTLE-HS-N group). The levels of IL-1β, IL-5, IL-6, IL-8, IL-17, IFN-γ and TNF-α in the peripheral blood of the patients in the three groups were detected by multimicrosphere flow immunofluorescence assay. The level of N-acetylaspartate (NAA) in the hippocampus was measured by 1H-MRS. The differences in cytokine levels among the three groups were analysed, and the correlation between cytokine and NAA levels was analysed. ResultsThe level of TNF-α in the peripheral blood of the patients in the mTLE-HS-P group was significantly higher than that of the patients in the mTLE-HS-N and healthy control groups, and the level of TNF-α in the patients in the mTLE-HS-N group was significantly higher than that of the patients in the healthy control group. The NAA level in mTLE-HS-P group patients was significantly lower than that of mTLE-HS-N patients and healthy controls, but there was no significant difference between mTLE-HS-N patients and healthy controls (P > 0.05). Spearman correlation analysis showed that TNF-α level (rs = -0.437, P < 0.05) and the longest duration of a single seizure (rs = -0.398, P < 0.05) were negatively correlated with NAA level. Logistic regression analysis showed that there was no significant correlation between the longest duration of a single seizure and hippocampal sclerosis, but TNF-α level was closely related to hippocampal sclerosis in patients with mTLE (OR = 1.315, 95 % CI 1.084–1.595, P = 0.005). ConclusionThe level of TNF-α in the peripheral blood of patients with medial temporal lobe epilepsy with hippocampal sclerosis was higher, and it was correlated with NAA and hippocampal sclerosis. The high expression of TNF-α may be of important value in the evaluation of hippocampal sclerosis patients.

First epileptic seizure and quality of life – A prospective study

ObjectiveImpaired QoL and depression are common in patients with chronic epilepsies; however, data on the impact of a first seizure on QoL are sparse. According to the current ILAE-definition of epilepsy, patients may be diagnosed with epilepsy immediately after the first seizure, if EEG and/or imaging findings are abnormal. Patients with normal findings in imaging and EEG are not diagnosed as having epilepsy. We investigated QoL in patients after a first seizure with and without a consecutive diagnosis of epilepsy to detect differences between groups within the first year after seizure. MethodsWe examined patients (n = 152) after a first epileptic seizure and six and 12 months thereafter using demographic, clinical and QoL-related questionnaire data (Short Form-36 Health Survey (SF-36), Quality of Life in Epilepsy Inventory-31 (QOLIE-31), Beck’s depression inventory II (BDI-II)). ResultsPatients diagnosed with epilepsy after the first seizure showed a tendency of reduced mental health-related QoL six (p =.098) and 12 months (p =.092) after the first seizure compared to patients who were not diagnosed with epilepsy, but were diagnosed as having had a single first seizure. There were no significant differences between the two groups in physical health-related QoL. Multiple regression analyses showed that especially depressive symptoms explained 22.0 – 48.7 % of the variance in mental health-related QoL six (p <.001) and 12 months (p <.001) after the first seizure. Physical health-related QoL was especially predicted by age (p <.001), group (p =.002) and recurrent seizures (p = < 0.001). In PWE, there was a statistical trend with improving QOLIE-31 overall scores from six to 12 months (p =.086). ConclusionOur results suggest that QoL may be impaired in patients diagnosed with epilepsy early, immediately after the onset of disease. Early follow-up monitoring from the beginning of patient career is important for possible interventions and to improve patients' daily life in the long term.

Primary hypoaldosteronism in a dog with concurrent suspected chronic hepatitis

A 3-year-old female spayed English Cocker Spaniel presented with a 2-month history of lethargy. The owner reported a single tonic-clonic seizure 7 months before presentation and intermittent mild gastrointestinal signs for the past 18 months. Initial investigations revealed hyponatraemia, hyperkalaemia and increased levels of liver enzymes. An adrenocorticotropic hormone stimulation test excluded hypocortisolism. The gastrointestinal signs resolved following a dietary change, suggesting that chronic enteropathy and most primary and secondary causes of hepatic disease were excluded, leaving idiopathic chronic hepatitis as the most likely cause of increased levels of liver enzymes. Liver parameters reduced to levels just above reference range after immunosuppressive doses of prednisolone. Aldosterone levels pre- and post-adrenocorticotrophic hormone stimulation were &lt;20 pmol/litre, consistent with mineralocorticoid deficiency. The mineralocorticoid deficiency was treated with desoxycorticosterone pivalate at 1–1.3 mg/kg subcutaneously every 48–87 days, which resulted in immediate and complete resolution of the clinical signs and electrolyte imbalance. Given the dog's signalment and results from clinical investigations, the isolated hypoaldosteronism is speculated to be caused by immune-mediated adrenal gland destruction. Isolated hypoaldosteronism should be considered a differential diagnosis for hyponatraemia in dogs, when an adrenocorticotrophic hormone stimulation test excludes hypocortisolism.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in patients with epilepsy and intellectual disability (ID). In this study, we aimed to delineate the epilepsy phenotype associated with RORB pathogenic variants and to provide arguments in favor of the pathogenicity of variants. Through an international collaboration, we analyzed seizure characteristics, EEG data, and genotypes of a cohort of patients with heterozygous variants in RORB. To gain insight into disease mechanisms, we performed ex vivo cortical electroporation in mouse embryos of 5 selected variants, 2 truncating and 3 missense, and evaluated on expression and quantified changes in axonal morphology. We identified 35 patients (17 male, median age 10 years, range 2.5-23 years) carrying 32 different heterozygous variants in RORB, including 28 single-nucleotide variants or small insertions/deletions (12 missense, 12 frameshift or nonsense, 2 splice-site variants, and 2 in-frame deletions), and 4 microdeletions; de novo in 18 patients and inherited in 10. Seizures were reported in 31/35 (89%) patients, with a median age at onset of 3 years (range 4 months-12 years). Absence seizures occurred in 25 patients with epilepsy (81%). Nineteen patients experienced a single seizure type: absences, myoclonic absences, or absences with eyelid myoclonia and focal seizures. Nine patients had absence seizures combined with other generalized seizure types. One patient had presented with absences associated with photosensitive occipital seizures. Three other patients had generalized tonic-clonic seizures without absences. ID of variable degree was observed in 85% of the patients. Expression studies in cultured neurons showed shorter axons for the 5 tested variants, both truncating and missense variants, supporting an impaired protein function. In most patients, the phenotype of the RORB-related disorder associates absence seizures with mild-to-moderate ID. In silico and in vitro evaluation of the variants in our cohort, including axonal morphogenetic experiments in cultured neurons, supports their pathogenicity, showing a hypomorphic effect.

Risk of epilepsy after a first epileptic seizure with unknown etiology in elderly patients

Patients whose epilepsy begins with seizures with unknown etiology in old age have been studied to a limited extent. The aim is to clinically characterise these patients, and predict their risk of developing epilepsy in the long term. This is a retrospective observational study of patients over 55 years old experiencing a first epileptic seizure with unknown etiology. The data were collected from their clinical history, including electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) results. Eighty-seven patients (58.6% male; 71.5 ± 8.1 years) were included. The mean follow-up was 7.3 ± 4.9 years. The most common vascular risk factor was arterial hypertension (77%; n = 67). Focal seizures with altered consciousness were the most frequent type of seizure (44.8%; n = 39), followed by focal seizures evolving to bilateral tonic-clonic seizures (39.1%; n = 34). Brain MRI showed cortical atrophy (50%; n = 42) and signs of small-vessel vascular disease (SVVD) (67.8%; n = 57). Interictal epileptiform EEG abnormalities were observed in 43.7% (n = 38) of the patients, mostly with temporal localisations (94.7%; n = 36). 44.8% (n = 39) had mild cognitive impairment at baseline. Recurrence of seizures, which was observed in 49 patients (56.1%), occurred after a median of 12 months (interquartile range: 4.4-25.9). Finally, 71 patients (81.6%) developed epilepsy. The risk of epilepsy in the long term following a single seizure of unknown etiology in elderly patients is greater than 80%. Arterial hypertension and mild cognitive impairment at baseline are the most common clinical features. Cortical atrophy and the presence of SVVD are frequent in MRI, and routine EEGs do not usually show epileptiform alterations.

APPLICATION OF AMPLITUDE-INTEGRATED ELECTROENCEPHALOGRAPHY IN PATIENTS OF NEONATAL INTENSIVE CARE UNITS

Intriduction. Amplitude-integrated electroencephalography is a technique for monitoring continuous cerebral function, when electroencephalographic signal is filtered, scaled and compressed in time.&#x0D; Objective of the study is to elucidate peculiarities of interpreting findings of the amplitude-integrated electroencephalography in patients of neonatal intensive care units, and represent a clinical case of establishing diagnosis by using the amplitude-integrated electroencephalography for a critically sick neonate.&#x0D; Materials and methods. A comprehensive literature review was conducted across international and national databases, including Elsevier, PubMed, Medline, Web of Science, Scopus, Cochrane Central Register of Controlled Trials, and Google Scholar, covering the period from 2019 to 2023. The search focused on the keywords "amplitude-integrated electroencephalography" and/or "aEEG" and "neonates" and/or "term infants" and/or "preterm infants." The clinical case presented took place at the neonatal intensive care unit of the Maternity Home "Central Municipal Clinical Hospital", Chernivtsi, Ukraine. Permission for publication was obtained from both parents of the child.&#x0D; Results. The main indications for conducting the amplitude-integrated electroencephalography in neonates include the assessment of the cerebral function and the degree of cerebral damage with hypoxic-ischemic encephalopathy or asphyxia at birth (often combined with therapeutic hypothermia); assessment of sleep-wake cycle; identification of seizures; assessment of cerebral function maturity in preterm neonates.&#x0D; The underlying cerebral activity is estimated according to the amplitude-integrated electroencephalography findings by means of a simple recognition of visual images corresponding to the five main patterns: Continuous Normal Voltage, Discontinuous Normal Voltage, Burst Suppression, Low Voltage, and Flat Trace. A typical neonatal single seizure fit on the amplitude-integrated electroencephalography looks like a “hump” or lower edge elevation interrupting the background recording. Repeated fits (epileptic status) look like a “saw” of repeated “humps”, one of each represents one attack. The article presents a clinical case of the diagnostic search in the neonate with congenital pneumonia and development of multiple organ failure syndrome including seizure syndrome. Clinical tonic-clonic seizures of the infant were associated with electroencephalographic criteria of status epilepticus both on the amplitude-integrated electroencephalography (repeated symmetrical elevations of the lower edge in the left and right) and on the standard electroencephalography (different variations of seizure graphic elements in the right and left). Considering the results of the clinical and instrumental examination, an adequate anticonvulsant therapy was administered.&#x0D; Conclusions. Continuous recording of the video-amplitude-integrated electroencephalography and standard electroencephalography in infants from the risk group is a good strategy of the neurological status effective monitoring. It enables to assess the underlying cerebral electric activity and it maturity, diagnose seizures and manage anticonvulsant therapy correctly. An adequate training of the staff who are at the patient’s bedside 24/7 is an important part of the interdisciplinary collaboration which is essential for a safe and effective management of patients in the neonatal intensive care units, prevention of early complications and disability in the future.

Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy

PCDH19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. Traditionally, patients with PCDH19-related epilepsy have not been considered surgical candidates. This retrospective review evaluated three patients with pathogenic variants in PCDH19 who presented with seizures in childhood, had one seizure semiology, became medication resistant, and had concordant imaging, seizure semiology and electrographic findings. All three patients ultimately underwent temporal lobectomy, resulting in seizure freedom. These findings suggest epilepsy surgery can be an effective treatment option for select patients with PCDH19-related epilepsy and a single seizure semiology.

Girl 2, 5 Years old in Status Epilepticus with COVID -19 InfectionA Case Report

Status epilepticus is defined as a single epileptic seizure of &gt;30 minutes duration or a series of epileptic seizures during which function is not regained between ictal events in a 30-minute period.

A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a-deficient mice.

Spreading depolarization (SD) is a massive wave of cellular depolarization that slowly migrates across the brain gray matter. Cortical SD is frequently generated following brain injury, while less is understood about its potential contribution to genetic disorders of hyperexcitability, such as SCN1A-deficient epilepsy, in which febrile seizure often contributes to disease initiation. Here we report that spontaneous SD waves are predominant EEG abnormalities in the Scn1a-deficient mouse (Scn1a+/R1407X) and undergo sustained intensification following a single hyperthermic seizure. Chronic DC-band EEG recording detected spontaneous SDs, seizures, and seizure-SD complexes in Scn1a+/R1407X mice but not WT littermates. The SD events were infrequent, while a single hyperthermia-induced seizure robustly increased SD frequency over 4-fold during the initial postictal week. This prolonged neurological aftermath could be suppressed by memantine administration. Video, electromyogram, and EEG spectral analysis revealed distinct neurobehavioral patterns; individual seizures were associated with increased motor activities, while SDs were generally associated with immobility. We also identified a stereotypic SD prodrome, detectable over a minute before the onset of the DC potential shift, characterized by increased motor activity and bilateral EEG frequency changes. Our study suggests that cortical SD is a pathological manifestation in SCN1A-deficient epileptic encephalopathy.