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Background: A pathogenic variant in SCN1A can result in a spectrum of phenotypes, including Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS + ) syndrome. Dravet syndrome (DS) is associated with refractory seizures, developmental delay, intellectual disability (ID), motor impairment, and challenging behavior(1,2). GEFS + is a less severe phenotype in which cognition is often normal and seizures are less severe. Challenging behavior largely affects quality of life of patients and their families. This study describes the profile and course of the behavioral phenotype in patients with SCN1A-related epilepsy syndromes, explores correlations between behavioral difficulties and potential risk factors., Methods: Data were collected from questionnaires, medical records, and semi-structured interviews. Behavior difficulties were measured using the Adult/Child Behavior Checklist (C/ABCL) and Adult self-report (ASR). Other questionnaires included the Pediatric Quality of Life Inventory (PedsQL), the Functional Mobility Scale (FMS) and the Sleep Behavior Questionnaire by Simonds & Parraga (SQ-SP). To determine differences in behavioral difficulties longitudinally, paired T-tests were used. Pearson correlation and Spearman rank test were used in correlation analyses and multivariable regression analyses were employed to identify potential risk factors., Results: A cohort of 147 participants, including 107 participants with DS and 40 with genetic epilepsy with febrile seizures plus (GEFS + ), was evaluated. Forty-six DS participants (43.0 %) and three GEFS + participants (7.5 %) showed behavioral problems in the clinical range on the A/CBCL total problems scale. The behavioral profile in DS exists out of withdrawn behavior, aggressive behavior, and attention problems. In DS patients, sleep disturbances (β = 1.15, p < 0.001) and a lower age (β = -0.21, p = 0.001) were significantly associated with behavioral difficulties. Between 2015 and 2022, behavioral difficulties significantly decreased with age (t = -2.24, CI = -6.10 - -0.15, p = 0.04) in DS participants aging from adolescence into adulthood. A decrease in intellectual functioning (β = 3.37, p = 0.02) and using less antiseizure medications in 2022 than in 2015, (β = -1.96, p = 0.04), were identified as possible risk factors for developing (more) behavioral difficulties., Conclusions: These findings suggest that, in addition to epilepsy, behavioral difficulties are a core feature of the DS phenotype. Behavioral problems require personalized management and treatment strategies. Further research is needed to identify effective interventions., 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.)

Objective: To review clinical and neuropsychological characteristics and natural history of a series of patients with temporal lobe epilepsy (TLE) and anterior temporal encephaloceles (ATE) and compare them to a similar series of TLE patients with mesial temporal sclerosis (MTS) to identify characteristics suggestive of ATE-related epilepsy., Methods: Patients with epilepsy and ATE were identified via clinic encounters and consensus epilepsy surgery conference at a Level 4 epilepsy center. The drug-resistant subset of these patients who underwent epilepsy surgery (twenty-two of thirty-five) were compared to age- and laterality-matched patients with MTS. Clinical, neuropsychological, electrophysiologic, and surgical data were abstracted through chart review., Results: In comparison with MTS, ATE patients were more often female, had significantly later onset of epilepsy, and did not have prior febrile seizures. In addition, ATE patients were more likely to have chronic headaches and other historical features consistent with idiopathic intracranial hypertension (IIH). Failure to identify ATE on initial imaging was common. Most patients had limited temporal cortical resections sparing mesial structures. Of the twenty ATE patients who had a long-term postsurgical follow-up, seventeen (85%) had International League Against Epilepsy (ILAE) Class 1 or 2 outcomes., Significance: A shorter duration of epilepsy, female gender, and lack of history of febrile seizures may suggest ATE as an etiology of refractory TLE in adults. Targeted encephalocele resections can result in seizure freedom, underscoring the importance of encephalocele identification., 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 © 2022 Elsevier Inc. All rights reserved.)

Introduction: Genetic epilepsy with febrile seizures plus (GEFS+) is an epilepsy syndrome with clinical heterogeneity that was first described in 1997. Central auditory processing (CAP) is defined as the neurophysiological process in decoding sound waves from the outer ear to the auditory cortex. The present study aimed to analyze CAP and phonological disorders in preschool-age children with GEFS+., Material and Method: This is a prospective case-control study. Twenty-seven patients diagnosed with GEFS+ aged between 4 years and 6 years and 6 months and 31 healthy controls in the same age range were included in the study. Phonological sensitivity test (SAT) and auditory discrimination test (İAT) were applied to both groups, and the results of both groups were statistically compared., Results: The SAT and İAT raw and Z scores of the subjects in the study group were found to be significantly higher than those of the control group (p = 0.001; p < 0.01). Electroencephalography (EEG) status of the patients or the duration of antiseizure medication use did not have a statistically significant effect on the outcome., Conclusion: Patients with GEFS+ have a significantly high impairment in both articulation and auditory discrimination of phonemes compared with the healthy population. Early diagnosis and early treatment of this condition can prevent potential literacy problems and the development of dyslexia in the future., 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 © 2022 Elsevier Inc. All rights reserved.)

Purpose: The aim of the study was to examine prehospital capillary lactate in children as a diagnostic biomarker to differentiate epileptic seizures from febrile seizures, syncope, and psychogenic nonepileptic seizures (PNES)., Methods: Capillary lactate concentrations taken in a pediatric prehospital setting within 2 h of the paroxysmal event were compared retrospectively between patients with epileptic seizure, febrile seizure, syncope, and PNES, based on the final diagnosis from the hospitalization report., Results: One hundred and two patients were included, 53 (52%) with epileptic seizures, 41 (40%) with febrile seizures, and 8 (8%) with syncope or PNES. Capillary lactate in patients with a final diagnosis of epileptic seizure was significantly increased in comparison to the concentrations in patients with febrile seizure (p < 0.0007) and in comparison to the concentrations in patients with syncope or PNES (p < 0.0204). The area under the ROC-curve was 0.71 (95% CI 0.61-0.80). For a cutoff concentration of prehospital capillary lactate >3.9 mmol/l (Youden index), the sensitivity was 49% and the specificity 92%., Conclusion: Prehospital capillary lactate concentrations are a useful tool for differentiating the nature of a paroxysmal event in children., 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 © 2022 Elsevier Inc. All rights reserved.)

Background: Febrile seizures are the most common type of seizures in children. While in most children the outcome is favorable, children with febrile status epilepticus may exhibit modest cognitive impairment. Whether children with other forms of complex febrile seizure, such as repetitive febrile seizures within the same illness are at risk of cognitive deficits is not known. In this study, we used a well-established model of experimental febrile seizures in rat pups to compare the effects of febrile status epilepticus and recurrent febrile seizures on subsequent spatial cognition and anxiety., Methods: Male and female rat pups were subjected to hyperthermic seizures at postnatal day 10 and were divided into groups of rats with continuous seizures for ≥40 min or recurrent febrile seizures. They were then tested as adults in the active avoidance and spatial accuracy tests to assess spatial learning and memory and the elevated plus maze to measure anxiety., Results: Febrile status epilepticus rats demonstrated impaired spatial cognition in active avoidance and spatial accuracy and exhibited reduced anxiety-like behavior in the elevated plus maze. Rats with recurrent febrile seizures did not differ significantly from the controls on any measures. There were also significant sex-related differences with females with FSE performing far better than males with FSE in active avoidance but demonstrating a navigational learning impairment relative to CTL females in spatial accuracy. However, once learned, females with FSE performed the spatial accuracy task as well as CTL females., Conclusion: There is a duration-dependent effect of febrile seizures on subsequent cognitive and behavioral outcomes. Febrile status epilepticus resulted in spatial cognitive deficits and reduced anxiety-related behaviors whereas rats with recurrent febrile seizures did not differ from controls. Sex had a remarkable effect on spatial cognitive outcome where males with FSE fared worse than females with FSE. The results demonstrate that sex should be considered as a biological variable in studies evaluating the effects of seizures on the developing brain., 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 © 2021 Elsevier Inc. All rights reserved.)

Background: The febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy which developed the refractory status epilepticus following or during a nonspecific febrile illness. To analyze the short-term and long-term outcome of FIRES in the children, we retrospectively analyzed the related data., Methods: The motor outcome was evaluated by modified Rankin scale (mRS). Poor motor outcome was defined as a mRS score of 4 or higher at discharge. Significant motor decline was defined as the mRS difference more than 2 before hospital admission and at discharge., Results: We totally enrolled 25 patients for analysis. Four patients were expired during hospitalization, and one patient was lost to follow-up after discharge. Therefore, a total 20 patients were finally analyzed. The age of disease onset ranged from 1.6 to 17.2 years (mean: 9.6 ± 4.4 years). Newly acquired epilepsy and cognitive deficit occurred in 100% and 61%, respectively. The duration of the anesthetic agents ranged from 7 to 149 days (mean: 34.2 ± 36.1 days). The duration of anesthetic agent usage (p = 0.011), refractory epilepsy (p = 0.003), and the use of ketogenic diet (p = 0.004) were significantly associated with the poor long-term motor outcome, and the number of anesthetic agents tended to be associated with the poor long-term motor outcome (p = 0.050). In-hospital mortality was 16%. Significant functional decline at discharge occurred in 100%. However, there was improvement in long-term follow-up., Conclusion: The outcome of FIRES is poor with significant mortality and morbidities. Refractory epilepsy with cognitive deficit in survived cases is common, but improvement is possible., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Introduction: The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of febrile seizures during childhood. It is characterized by the presence of prolonged unilateral clonic seizures occurring during febrile illness in a child less than 4years of age. Then, a flaccid unilateral hemiplegia with variable duration occurs., Objectives: The objective of the study was to describe the clinical, electroencephalogram (EEG), and neuroimaging treatment and outcome of series of cases of HHE syndrome followed for 10years in our clinical neurophysiology department of the specialty hospital of Rabat., Patients and Methods: We report a retrospective study of 35 patients followed up for HHE syndrome from January 2005 to December 2015. All patients included in the study met the definition criteria for HHE syndrome., Results: The age of onset ranged from 1 to 10years. Hemiplegia or spastic hemiparesis of the ipsilateral side to the convulsion was present in all patients. Abnormal brain magnetic resonance imaging (MRI) was found in all patients. All patients developed drug-resistant focal epilepsy during the course of the disease., Conclusions: The management of HHE syndrome constitutes a real public health problem in developing countries like Morocco. The neurological morbidity and the severe sequels are of high impact in these young kids. On the one hand, authors highlight the need for improving emergency care of status epilepticus. On the other hand, in our context, the prophylaxis of febrile seizures seems to be the corner stone of the prevention of HHE Syndrome., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: The objective of this study was to determine early developmental and cognitive outcomes of children with febrile status epilepticus (FSE) one month and one year after FSE., Methods: One hundred ninety four children with FSE were evaluated on measures of cognition, receptive language, and memory as part of the FEBSTAT study and compared with 100 controls with simple febrile seizures (FSs)., Results: Children with FSE did not differ dramatically on tasks compared with FS controls at one month after FSE but demonstrated slightly weaker motor development (p=0.035) and receptive language (p=0.034) at one year after FSE. Performances were generally within the low average to average range. Within the FSE cohort, non-White children performed weaker on many of the tasks compared with Caucasian children. At the one-year visit, acute hippocampal T2 findings on MRI were associated with weaker receptive language skills (p=0.0009), and human herpes virus 6 or 7 (HHV6/7) viremia was associated with better memory performances (p=0.047)., Conclusion: Febrile status epilepticus does not appear to be associated with significant cognitive impairment on early developmental measures, although there is a trend for possible receptive language and motor delay one year after FSE. Further follow-up, which is in progress, is necessary to track long-term cognitive functioning., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Attention-deficit/hyperactivity disorder (ADHD) is a common comorbidity in children with epilepsy and has a negative impact on behavior and learning. The purposes of this study were to quantify the prevalence of ADHD in benign childhood epilepsy with centrotemporal spikes (BCECTS) and to identify clinical factors that affect ADHD or attention impairment in patients with BCECTS. The medical records of 74 children (44 males) with neuropsychological examination from a total of 198 children diagnosed with BCECTS at Asan Medical Center were retrospectively reviewed. Electroclinical factors were compared across patients with ADHD and those without ADHD. Mean T-scores of the continuous performance test were compared across patients grouped according to various epilepsy characteristics. Forty-eight (64.9%) patients had ADHD. A history of febrile convulsion was more common in patients with ADHD than in patients without ADHD (p=0.049). Bilateral centrotemporal spikes on electroencephalogram were more common in patients receiving ADHD medication than in patients with untreated ADHD (p=0.004). Male patients, patients with frequent seizures prior to diagnosis, and patients with a high spike index (≥40/min) on sleep EEG at diagnosis had significantly lower visual selective attention (p<0.05). Children with BCECTS had a high prevalence of ADHD, and frequent seizures or interictal epileptiform abnormalities were closely related to impairment of visual selective attention in children with BCECTS, indicating the need for ADHD or attention impairment screening in children with BCECTS., (Copyright © 2014 Elsevier Inc. All rights reserved.)

It has been documented that anteromedial temporal lobe dysfunction can cause impairment in emotional intelligence. In particular, medial temporal lobe epilepsy (MTLE) is associated with disorders in emotion recognition from facial expressions. About one-third of patients with MTLE experienced febrile seizures (FSs) during childhood. In the present study, we investigated facial emotion recognition ability in a group of 38 school-aged children with antecedent FSs and in an age- and sex-matched control group. Children with abnormal general visuoperceptual abilities were excluded. Children with FSs showed lower recognition scores versus controls in both matching (28.64 vs 33.47; p<.0001) and labeling (21.25 vs 23.03; p=.001) facial emotions. Our findings support the hypothesis that FSs can be associated during childhood with a dysfunction within the neural network subserving the processing of facial expressions of the basic emotions., (© 2013.)

To determine whether first febrile seizure (FS) has detrimental effects on development, 159 children (aged 6 months to 5 years) with FS were compared to 142 controls on measures of cognition, motor ability, and adaptive behavior. Participants were identified through the emergency department in an urban, low-income community. Children were evaluated within one month of the ED visit and one year later, and difference in performance over one year was examined. Performance did not differ between cases and controls on measures of cognition (baseline: p=0.5, one year: p=0.2, change over time: p=0.1) or motor skills (baseline: p=0.9, one year: p=0.7, change over time, p=0.6). The adaptive behavior composite score did not differ by FS case status at baseline (p=0.2) or one year later (p=0.6); however, between-group differences over time approached significance (p=0.05). Findings support the idea that first FS does not pose developmental or behavioral consequences in a low socioeconomic environment., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Autism is a pervasive developmental disorder that frequently co-occurs with epilepsy. Dravet syndrome is a severe epileptic encephalopathy associated with psychomotor developmental delay. Autism in Dravet syndrome, however, has rarely been studied. In this study, the prevalence and features of autism in patients with Dravet syndrome, their potential association with mental retardation, and the clinical characteristics of epilepsy were investigated. Clinical data of 37 patients with Dravet syndrome were collected, and evaluations of autism and mental retardation were performed. Nine patients (24.3%) met the criteria for autism. All patients with autism showed speech delay, no emotional reciprocity, and narrow interests, whereas 89.3, 46.4, and 39.9% of patients without autism had speech delay, short temper, and narrow interests, respectively. Mental retardation was observed in 94.6% of patients with Dravet syndrome, with more frequent severe or profound mental retardation in those with autism. The clinical features of epilepsy did not statistically differ between the patients with autism and the patients without autism., (Copyright © 2011 Elsevier Inc. All rights reserved.)

In this retrospective European multicenter study we evaluated the efficacy and tolerability of rufinamide in patients with Dravet syndrome and refractory seizures. Twenty patients were included; in 16 patients a SCN1A mutation was detected. The responder rate after 6 months was 20%, and after 34 months, 5%. The retention rate was 45% after 6 months and 5% after 34 months. Rufinamide treatment was stopped because of aggravation of seizures (30%), no effect (45%), and side effects (10%). The efficacy and long-term retention rate were low in our patients with Dravet syndrome and refractory seizures, far lower than in patients with Lennox-Gastaut syndrome; one-third of our patients experienced seizure aggravation. Therefore, rufinamide does not seem to be a suitable option for long-term treatment in patients with Dravet syndrome., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Purpose: Status epilepticus (SE) is a medical emergency with significant associated mortality and morbidity. This study was conducted to determine the etiology and outcome of SE in children., Methods: All patients from 1 month to 15 years old with SE admitted to Nemazee Hospital, Shiraz, Iran, the main pediatric hospital in the area, between 1999 and 2004, were studied in a retrospective cross-sectional study. Outcomes were rated according to the Glasgow Outcome Score (GOS)., Results: In all, 135 patients (76 boys, 59 girls) were studied. The most common cause of SE was fever. Etiology of SE did not differ significantly between various age groups and also between boys and girls (P=0.736 and P=0.156, respectively). Fourteen patients died in hospital and 81 were discharged in good health. Outcome did not differ significantly between the age groups (P=0.695) or between boys and girls (P=0.386). When classified as good (GOS=5) and bad (GOS=1-4), outcome was significantly correlated with etiology of SE (P=0.017). Prolonged febrile seizures had the best, and symptomatic SE the worst, outcome., Discussion: In this study, even in children above 3 years of age, fever was the most common cause of SE. This is noteworthy and heralds the need to pay more attention to febrile seizures, especially in children at risk for their occurrence. Outcome was not related to age and sex, but etiology of SE significantly influenced outcome.