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Background: Self-limited epilepsy with autonomic seizures (SeLEAS), formerly known as Panayiotopoulos syndrome (PS), is a common multifocal autonomic childhood epileptic syndrome. SeLEAS affects 6% of children in between the ages of 1 and 15 years who have had one or more afebrile seizures in their lifetime. Case: A 5-year-old girl was admitted to the paediatric emergency room (ER) of our hospital due to a reported episode of vomiting during her sleep, followed by central cyanosis perorally of sort duration (

• High-frequency oscillations (HFOs) in interictal scalp EEG in patients with Panayiotopoulos syndrome (PS) were analyzed. • The longer the duration of HFO appearance, the longer the duration of seizure activity. • Scalp-recorded HFOs are an important biomarker of epileptogenicity and seizure activity of PS. We studied the relationship between the clinical course of Panayiotopoulos syndrome (PS) and high-frequency oscillations (HFOs) captured during interictal scalp electroencephalography (EEG) to determine the feasibility of using HFOs to detect seizure activity in PS. We analyzed the interictal scalp EEGs of 18 children with PS. Age parameters, seizure frequencies, and antiepileptic drugs were compared between the HFO-positive (HFOPG) and HFO-negative (HFONG) groups. Thirteen patients (72.2%) had HFOs while five patients (27.8%) had no HFOs in 194 interictal EEG records. We found no statistically significant differences in the mean age of epilepsy onset and last seizure, seizure frequency, or frequency of status epilepticus. However, the seizure activity period of the HFOPG was significantly longer than that of the HFONG. Patients with an HFO duration longer than 2 years were intractable to treatment. In most cases, seizures did not occur in the absence of HFOs, even when the spikes remained. HFOs are related to the seizure activity period in patients with PS. We propose that HFOs are a biomarker of epileptogenicity and an indicator for drug reduction because seizures did not occur if HFOs disappeared even if the spikes remained. [ABSTRACT FROM AUTHOR]

In the 2022 New International Classification of Epilepsy Syndromes, self-limited epilepsy with autonomic seizures (SeLEAS), formerly known as Panayiotopoulos syndrome is recognized as an electroclinical syndrome that is clinically characterized by autonomic seizures and electroencephalographically by multifocal EEG foci. EEG studies were reviewed herein and the suitability of the EEG definition to characterize SeLEAS was assessed. METHODS AND RESULTS: The EEG findings of SeLEAS studies published to date were reviewed and typical sites of EEG foci and their evolutionary changes with age were analyzed. Although previous studies investigated the details of interictal EEG characteristics in a sufficient number of SeLEAS cases, there were few systematically analyzing cross sectional and longitudinal EEG changes except one study. Despite these limited evidence, I propose the following practical and useful EEG definition. The interictal EEG characteristics of SeLEAS are multifocal EEG foci with age-dependent predominant locations; occipital (O) at 2–5 years old, and occipital and frontopolar (synchronous and independent O and Fp spikes) at 4–7 years old and centro-parieto-temporal (CPT) at 6–10 years old. O EEG foci evolve to multifocal EEG foci with a O–Fp or CPT predominance with age and disappear by 12∼16 years old. O–Fp EEG foci may further evolve to generalized spike-wave complexes and rarely to spike-wave activated in sleep. In rare cases, the EEGs do not have epileptic EEG foci. CONCLUSION: Interictal EEG foci in SeLAES may have different EEG patterns in terms of location and the mode of appearance depending on the age at which EEG is recorded. O–Fp EEG foci may be a specific EEG pattern indicating a diagnosis of SeLEAS. • The EEG definition of SeLEAS has changed from O foci to multifocal foci. • O foci are no longer required for a diagnosis of SeLEAS. • O foci evolve to multifocal foci with a O–Fp or CPT predominance with age. • O–Fp EEG foci may be a specific EEG pattern indicating the SeLEAS diagnosis. [ABSTRACT FROM AUTHOR]

Background: Self-limited epilepsy with autonomic seizures (SeLEAS), formerly known as Panayiotopoulos syndrome (PS), is a common multifocal autonomic childhood epileptic syndrome. SeLEAS affects 6% of children in between the ages of 1 and 15 years who have had one or more afebrile seizures in their lifetime. Case: A 5-year-old girl was admitted to the paediatric emergency room (ER) of our hospital due to a reported episode of vomiting during her sleep, followed by central cyanosis perorally of sort duration (<5′), a right turn of her head, and gaze fixation with right eye deviation. She was dismissed after a one-day hospitalization free of symptoms. A month later, the patient was admitted to the paediatric ER of a tertiary health unit due to a similar episode. The patient underwent EEG, which revealed pathologic paroxysmal abnormalities of high-amplitude sharp waves and spike-wave complexes in temporal-occipital areas of the left hemisphere, followed by enhancement of focal abnormalities in temporal-occipital areas of the left hemisphere during sleep. The patient was diagnosed with SeLEAS and started levetiracetam. Conclusions: SeLEAS can be easily misdiagnosed as many physicians may not be very familiar with this disease, and, on the other hand, the autonomic manifestations can be easily disregarded as seizures. The physician must always be alert and search beneath the symptoms to find the cause rather than only treat them. [ABSTRACT FROM AUTHOR]

Seizures occur in approximately one-third of children with cerebral palsy. This study aimed to determine epilepsy syndromes in children with seizures and cerebral palsy due to vascular injury, anticipating that this would inform treatment and prognosis. We studied a population-based cohort of children with cerebral palsy due to prenatal or perinatal vascular injuries, born 1999–2006. Each child's MRI was reviewed to characterize patterns of grey and white matter injury. Children with syndromic or likely genetic causes of cerebral palsy were excluded, given their inherent association with epilepsy and our aim to study a homogeneous cohort of classical cerebral palsy. Chart review, parent interview and EEGs were used to determine epilepsy syndromes and seizure outcomes. Of 256 children, 93 (36%) had one or more febrile or afebrile seizures beyond the neonatal period and 87 (34%) had epilepsy. Children with seizures were more likely to have had neonatal seizures, have spastic quadriplegic cerebral palsy and function within Gross Motor Function Classification System level IV or V. Fifty-six (60%) children with seizures had electroclinical features of a self-limited focal epilepsy of childhood; we diagnosed these children with a self-limited focal epilepsy-variant given the current International League Against Epilepsy classification precludes a diagnosis of self-limited focal epilepsy in children with a brain lesion. Other epilepsy syndromes were focal epilepsy—not otherwise specified in 28, infantile spasms syndrome in 11, Lennox–Gastaut syndrome in three, genetic generalized epilepsies in two and febrile seizures in nine. No epilepsy syndrome could be assigned in seven children with no EEG. Twenty-one changed syndrome classification during childhood. Self-limited focal epilepsy-variant usually manifested with a mix of autonomic and brachio-facial motor features, and occipital and/or centro-temporal spikes on EEG. Of those with self-limited focal epilepsy-variant, 42/56 (75%) had not had a seizure for >2 years. Favourable seizure outcomes were also seen in some children with infantile spasms syndrome and focal epilepsy-not otherwise specified. Of the 93 children with seizures, at last follow-up (mean age 15 years), 61/91 (67%) had not had a seizure in >2 years. Children with cerebral palsy and seizures can be assigned specific epilepsy syndrome diagnoses typically reserved for normally developing children, those syndromes commonly being age-dependent and self-limited. Compared to typically developing children with epilepsy, self-limited focal epilepsy-variant occurs much more commonly in children with cerebral palsy and epilepsy. These findings have important implications for treatment and prognosis of epilepsy in cerebral palsy, and research into pathogenesis of self-limited focal epilepsy. [ABSTRACT FROM AUTHOR]

Dravet syndrome (DRVT) is a rare form of neurodevelopmental disorder with a high risk of sudden unexpected death in epilepsy (SUDEP), caused mainly (>80% cases) by mutations in the SCN1A gene, coding the Nav1.1 protein (alfa-subunit of voltage-sensitive sodium channel). Mutations in SCN1A are linked to heterogenous epileptic phenotypes of various types, severity, and patient prognosis. Here we generated iPSC lines from fibroblasts obtained from three individuals affected with DRVT carrying distinct mutations in the SCN1A gene (nonsense mutation p.Ser1516*, missense mutation p.Arg1596His, and splicing mutation c.2589+2dupT). The iPSC lines, generated with the non-integrative approach, retained the distinct SCN1A gene mutation of the donor fibroblasts and were characterized by confirming the expression of the pluripotency markers, the three-germ layer differentiation potential, the absence of exogenous vector expression, and a normal karyotype. The generated iPSC lines were used to establish ventral forebrain organoids, the most affected type of neurons in the pathology of DRVT. The DRVT organoid model will provide an additional resource for deciphering the pathology behind Nav1.1 haploinsufficiency and drug screening to remediate the functional deficits associated with the disease. [ABSTRACT FROM AUTHOR]

Olga An,1 Lidia Mayumi Nagae,2 Steven Parrish Winesett3 1Department of Children’s Diseases, Kazakhstan’s Medical University “KSPH” - School of Public Health, Almaty, Kazakhstan; 2Department of Medical Imaging, Neuroradiology, Banner University Medical Center, Tucson, AZ, USA; 3Department of Pediatrics, Division of Pediatric Neurology, University of Florida, Gainesville, FL, USACorrespondence: Olga AnDepartment of Children’s Diseases, Kazakhstan’s Medical University “KSPH”, 19 a, Utepov st., Almaty, KazakhstanTel +7 707 101-5023Email a.olga@ksph.kzBackground: Cerebral palsy is the most frequent motor disability in childhood and is associated with a higher incidence of seizure disorders. In many instances, it is recognized that motor difficulties, as well as seizures, are from the same underlying brain lesion. However, self-limited childhood epilepsies, being a common group of epilepsy syndromes, would be expected to occur in patients with cerebral palsy merely on chance association and be unrelated to the structural brain imaging abnormality causing the motor impairment. Differential diagnosis in this case is important determining the long-term prognosis and need for anticonvulsant treatment.Case Presentation: Here, we report two patients with cerebral palsy combined with epilepsy, whose age at onset, seizure semiology and electroclinical features were similar to children with self-limited childhood-specific seizure disorders (childhood epilepsy with centrotemporal spikes and Panayiotopoulos syndrome).Conclusion: These cases highlight the importance of comprehensive differential diagnosis of seizures in cerebral palsy. Co-existence of age-dependent focal epilepsies with an underlying brain pathology as white matter injury, not affecting the cerebral cortex, might take place in the case of children with impaired motor skills. With health systems increasingly utilizing clinical pathways, it is important to consider the possibility of a self-limited childhood epilepsy and avoid aggressive and unnecessary medication treatment in children with cerebral palsy.Keywords: childhood epilepsy with centrotemporal spikes, CECTS, Panayiotopoulos syndrome, cerebral palsy, white matter injury

The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific syndrome provides guidance on management and prognosis. In this paper, we describe the childhood onset epilepsy syndromes, most of which have both mandatory seizure type(s) and interictal electroencephalographic (EEG) features. Based on the 2017 Classification of Seizures and Epilepsies, some syndrome names have been updated using terms directly describing the seizure semiology. Epilepsy syndromes beginning in childhood have been divided into three categories: (1) self‐limited focal epilepsies, comprising four syndromes: self‐limited epilepsy with centrotemporal spikes, self‐limited epilepsy with autonomic seizures, childhood occipital visual epilepsy, and photosensitive occipital lobe epilepsy; (2) generalized epilepsies, comprising three syndromes: childhood absence epilepsy, epilepsy with myoclonic absence, and epilepsy with eyelid myoclonia; and (3) developmental and/or epileptic encephalopathies, comprising five syndromes: epilepsy with myoclonic–atonic seizures, Lennox–Gastaut syndrome, developmental and/or epileptic encephalopathy with spike‐and‐wave activation in sleep, hemiconvulsion–hemiplegia–epilepsy syndrome, and febrile infection‐related epilepsy syndrome. We define each, highlighting the mandatory seizure(s), EEG features, phenotypic variations, and findings from key investigations. [ABSTRACT FROM AUTHOR]

Panayiotopoulos syndrome (PS) is a common benign epilepsy in childhood, characterized by predominantly autonomic symptoms such as emesis, pallor, and seizures, which are often prolonged. In an emergency room (ER), particularly when unconsciousness is prolonged, differentiating PS from acute encephalopathy is challenging. In this study, we aimed to elucidate the differences in clinical features of patients with PS and acute encephalopathy who visited our ER. We retrospectively reviewed 18 patients who were transferred to our ER because of status epilepticus later diagnosed as PS, and 30 patients with acute encephalopathy, between July 2012 and July 2017. We compared patient demographics, clinical characteristics, and treatment. Most patients (90%) with acute encephalopathy had convulsive seizures of greater than or equal to 15 min, whereas only three patients (17%) with PS had convulsive seizures of greater than or equal to 15 min (P < 0.001). In addition, seizures were treatable in all patients with PS with a small dose of midazolam (0.1 mg/kg), but all patients with acute encephalopathy required midazolam at 0.3 mg/kg or more (P < 0.001). More patients with PS had autonomic symptoms compared to those with acute encephalopathy (e.g., vomiting [78% vs. 3%, P < 0.001]). Non-convulsive status epilepticus was observed in 22% of PS patients, but not in any acute encephalopathy patients. In contrast, fever was observed in all patients with acute encephalopathy (100%), but less frequently in those with PS (11%, P < 0.001). PS was characterized by 1) convulsive seizures shorter than 15 min, 2) seizures treatable with small doses of midazolam, and 3) autonomic symptoms. PS could be differentiated from acute encephalopathy in the early stages of the syndrome. [ABSTRACT FROM AUTHOR]

One of the most common epileptic disorders in the pediatric population is Panayiotopoulos syndrome. Clinical manifestations of this idiopathic illness include predominantly autonomic symptoms and dysfunction of the cardiorespiratory system. Another feature constitutes prolonged seizures that usually occur at sleep. It is crucial to differentiate the aforementioned disease from other forms of epilepsy, especially occipital and structural epilepsy and non-epileptic disorders. The diagnostic process is based on medical history, clinical examination, neuroimaging and electroencephalography—though results of the latter may be unspecific. Patients with Panayiotopoulos syndrome (PS) do not usually require treatment, as the course of the disease is, in most cases, mild, and the prognosis is good. The purpose of this review is to underline the role of central autonomic network dysfunction in the development of Panayiotopoulos syndrome, as well as the possibility of using functional imaging techniques, especially functional magnetic resonance imaging (fMRI), in the diagnostic process. These methods could be crucial for understanding the pathogenesis of PS. More data arerequired to create algorithms that will be able to predict the exposure to various complications of PS. It also concerns the importance of electroencephalography (EEG) as a tool to distinguish Panayiotopoulos syndrome from other childhood epileptic syndromes and non-epileptic disorders. [ABSTRACT FROM AUTHOR]

Dravet syndrome (DRVT) is a rare form of neurodevelopmental disorder with a high risk of sudden unexpected death in epilepsy (SUDEP), caused mainly (>80% cases) by mutations in the SCN1A gene, coding the Nav1.1 protein (alfa-subunit of voltage-sensitive sodium channel). Mutations in SCN1A are linked to heterogenous epileptic phenotypes of various types, severity, and patient prognosis. Here we generated iPSC lines from fibroblasts obtained from three individuals affected with DRVT carrying distinct mutations in the SCN1A gene (nonsense mutation p.Ser1516*, missense mutation p.Arg1596His, and splicing mutation c.2589+2dupT). The iPSC lines, generated with the non-integrative approach, retained the distinct SCN1A gene mutation of the donor fibroblasts and were characterized by confirming the expression of the pluripotency markers, the three-germ layer differentiation potential, the absence of exogenous vector expression, and a normal karyotype. The generated iPSC lines were used to establish ventral forebrain organoids, the most affected type of neurons in the pathology of DRVT. The DRVT organoid model will provide an additional resource for deciphering the pathology behind Nav1.1 haploinsufficiency and drug screening to remediate the functional deficits associated with the disease.

One of the most common epileptic disorders in the pediatric population is Panayiotopoulos syndrome. Clinical manifestations of this idiopathic illness include predominantly autonomic symptoms and dysfunction of the cardiorespiratory system. Another feature constitutes prolonged seizures that usually occur at sleep. It is crucial to differentiate the aforementioned disease from other forms of epilepsy, especially occipital and structural epilepsy and non-epileptic disorders. The diagnostic process is based on medical history, clinical examination, neuroimaging and electroencephalography—though results of the latter may be unspecific. Patients with Panayiotopoulos syndrome (PS) do not usually require treatment, as the course of the disease is, in most cases, mild, and the prognosis is good. The purpose of this review is to underline the role of central autonomic network dysfunction in the development of Panayiotopoulos syndrome, as well as the possibility of using functional imaging techniques, especially functional magnetic resonance imaging (fMRI), in the diagnostic process. These methods could be crucial for understanding the pathogenesis of PS. More data arerequired to create algorithms that will be able to predict the exposure to various complications of PS. It also concerns the importance of electroencephalography (EEG) as a tool to distinguish Panayiotopoulos syndrome from other childhood epileptic syndromes and non-epileptic disorders.

Background and purpose: Some epilepsy syndromes (sleep‐related epilepsies, SREs) have a strong link with sleep. Comorbid sleep disorders are common in patients with SRE and can exert a negative impact on seizure control and quality of life. Our purpose was to define the standard procedures for the diagnostic pathway of patients with possible SRE (scenario 1) and the general management of patients with SRE and comorbidity with sleep disorders (scenario 2). Methods: The project was conducted under the auspices of the European Academy of Neurology, the European Sleep Research Society and the International League Against Epilepsy Europe. The framework entailed the following phases: conception of the clinical scenarios; literature review; statements regarding the standard procedures. For the literature search a stepwise approach starting from systematic reviews to primary studies was applied. Published studies were identified from the National Library of Medicine's MEDLINE database and Cochrane Library. Results: Scenario 1: Despite a low quality of evidence, recommendations on anamnestic evaluation and tools for capturing the event at home or in the laboratory are provided for specific SREs. Scenario 2: Early diagnosis and treatment of sleep disorders (especially respiratory disorders) in patients with SRE are likely to be beneficial for seizure control. Conclusions: Definitive procedures for evaluating patients with SRE are lacking. Advice is provided that could be of help for standardizing and improving the diagnostic approach of specific SREs. The importance of identifying and treating specific sleep disorders for the management and outcome of patients with SRE is underlined. [ABSTRACT FROM AUTHOR]

Panayiotopoulos syndrome (PS) is a self-limited focal epilepsy appearing in childhood. Seizures in PS are self-limiting and do not usually continue into adulthood. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy, developing around puberty and continuing throughout adulthood. We describe four cases of PS in childhood in which JME developed in adolescence. Age at onset ranged from 4 to 8 years for PS, and 11 to 14 years for JME. JME developed after PS subsided, with the interval between last PS seizure and first JME seizure ranging from 1 to 10 years. No link between the two conditions has previously been described. Since PS is considered to show good prognosis and to be self-limiting, long-term observation has been considered unnecessary. No definitive factors were found to predict future evolution to JME in our series, so longer-term follow-up may be warranted for all PS patients.

Panayiotopoulos syndrome (PS) is a self-limited focal epilepsy appearing in childhood. Seizures in PS are self-limiting and do not usually continue into adulthood. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy, developing around puberty and continuing throughout adulthood. We describe four cases of PS in childhood in which JME developed in adolescence. Age at onset ranged from 4 to 8 years for PS, and 11 to 14 years for JME. JME developed after PS subsided, with the interval between last PS seizure and first JME seizure ranging from 1 to 10 years. No link between the two conditions has previously been described. Since PS is considered to show good prognosis and to be self-limiting, long-term observation has been considered unnecessary. No definitive factors were found to predict future evolution to JME in our series, so longer-term follow-up may be warranted for all PS patients. [ABSTRACT FROM AUTHOR]

Panayiotopoulos syndrome (PS) is a frequent (6% among children of 1–15 years) and benign epileptic syndrome, characterized by predominantly autonomic symptoms (emesis, pallor, flushing, cyanosis, mydriasis/miosis, cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility) associated with simple motor focal seizures, which can be followed by secondary generalization. Panayiotopoulos syndrome can be extremely insidious, because it can mimic several condition, such as gastroenteritis, gastroesophageal reflux disease, encephalitis, syncope, migraine, sleep disorders, or even metabolic diseases. This peculiar pleiotropism should be kept in mind by child neurologists and pediatricians and general practitioners, because a wrong diagnosis may lead to inappropriate interventions. The consequences are high morbidity, costly mismanagement, and stress for children and their parents. The availability of electroencephalography (EEG) recording in pediatric Emergency Departments might be useful for a prompt and not-cost-consuming diagnosis. On the other hand, it is important to be aware of the possible, multifaceted, clinical presentations of PS and its clinical, radiological, and neurophysiological features in order to improve both recognition and management. • Panayiotopoulos syndrome (PS) is a frequent and benign epileptic syndrome. • It is characterized by isolated or predominantly long-lasting autonomic symptoms. • PS can be extremely insidious because it can imitate common nonepileptic conditions. • Consequences are misdiagnosis, mismanagement, and stress for children and parents. • The availability of EEG recording in pediatric emergency department could be crucial. [ABSTRACT FROM AUTHOR]

The relationship between headache and epilepsy is complex and despite the nature of this association is not yet clear. In the last few years, it has been progressively introduced the concept of the "ictal epileptic headache" that was included in the recently revised International Classification of Headaches Disorders 3rd edition (ICHD-3-revised). The diagnostic criteria for ictal epileptic headache (IEH) suggested in 2012 were quite restrictive thus leading to the underestimation of this phenomenon. However, these criteria have not yet been included into the ICHD-3 revision published in 2018, thus creating confusion among both, physicians and experts in this field. Here, we highlight the importance to strictly apply the original IEH criteria explaining the reasons through the analysis of the clinical, historical, epidemiological and pathophysiological characteristics of the IEH itself. In addition, we discuss the issues related to the neurophysiopathological link between headache and epilepsy as well as to the classification of these epileptic events as "autonomic seizure." [ABSTRACT FROM AUTHOR]

We overview here the new data about the epileptic spectrum disorders within the frame of perisylvian epileptic network since our first trial to synthetize knowledge about this system epilepsy (Halász et al., 2005). We found evidences for a continual features relating together syndromes constituting this spectrum disorder in several fields: in sharing genetic origin, in common perisylvian human communication circuitry, in NREM sleep related potentiation of interictal epileptiform discharges of the centro-temporal spike phenomenon and in the discharge related cognitive impairment, reflecting functional deficits in human communication abilities. The transformation of a part of the children to develop into a malignant course with different degree of residual cognitive loss, through compromising sleep plastic functions, by the epileptic discharges during sleep, beside pure genetic origin, is still under research. Both factual data and new conceptual approaches helps understand better the developmental childhood epilepsies. [ABSTRACT FROM AUTHOR]

Abstract: the article present the literature data on clinical, EEG characteristics of benign occipital epilepsy of childhood with early debut – Panayiotopoulos syndrome, and the results of own research group of patients with this form of idiopathic epilepsy. The article contains the case report of a 5 years-old girl with combination Panayiotopoulos syndrome and a structural pathology of the brain by neuroimaging data. In conclusion the authors provide recommendations for diagnosis and treatment of Panayiotopoulos syndrome that may be useful for pediatric neurologist in everyday practice.

Fixation-off sensitivity (FOS) is a rare phenomenon elicited by elimination of central vision and fixation, which even in the presence of light induces occipital paroxysms or generalized paroxysmal discharges. It is most commonly encountered in patients with idiopathic childhood occipital epilepsies but may also be observed in cases of symptomatic focal and generalized epilepsies. We describe a female Emirati child with Panayiotopoulos syndrome who exhibited FOS in addition to the reverse phenomenon called “inverted fixation-off sensitivity,” in which the electroencephalographic discharges were suppressed by the absence of central vision or fixation and activated by central vision or fixation.

Purpose: To compare the de novo incidence of Panayiotopoulos syndrome (PS, early-onset childhood occipital epilepsy) and a common epilepsy syndrome, benign epilepsy with centro-temporal spikes (BECTS), in children and young people.Methods: The incidence of PS and BECTS was recorded over 16 months in a population of children and young people (aged <16 years) living within a specific geographic area and epilepsy network within the North West of England and North Wales and the catchment area of the tertiary paediatric epilepsy centre. Monthly data collection proformas were circulated to the paediatricians and paediatric neurologists responsible for the evaluation of epilepsy in children within this area. This also included monthly reminders of the electro-clinical criteria for these syndromes. EEGs were undertaken in the neurophysiology department of the tertiary paediatric epilepsy centre. The departmental EEG database on all <16 year olds that underwent an EEG during the study period was examined to identify additional patients that may not have been reported via a proforma-reporting system.Results: The incidence of PS and BECTS was found to be 0.8 and 6.1 per 100,000 <16 year olds, respectively. The ages at seizure onset and diagnosis were similar for BECTS and PS.Conclusion: This study is the first to determine a comparative incidence of PS and BECTS. The findings suggest BECTS is eight times more common than PS and that the incidence of PS is lower than previously suggested. [ABSTRACT FROM AUTHOR]

We describe a child with Panayiotopoulos syndrome (PS) who presented with autonomic status epilepticus and developed respiratory arrest requiring intubation and mechanical ventilation. Because of that life-threatening episode and the risk of developing a similar event in subsequent seizures, we decided to initiate our patient on AED treatment. Such life-threatening complications were previously reported in only four children with PS. Although PS is considered to be a benign childhood epilepsy syndrome usually not requiring treatment with antiepileptic drugs, our case and the small number of similar cases in the literature show it is important to realize that it can rarely be associated with life-threatening complications. It is our opinion that children with PS who develop an episode of autonomic status epilepticus and those living in remote areas with no quick access to emergency departments should be initiated on AED therapy to minimize the risk of experiencing a subsequent potentially fatal seizure. We further suggest that the use of benzodiazepines in this syndrome should only be administered during the early stage of the seizure, since administration of this class of drugs during an established autonomic status epilepticus can result in further respiratory depression.

Purpose: Among syndromes of idiopathic occipital lobe epilepsy there are Panayiotopoulos syndrome (PS) and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). However, the classification of epilepsy syndrome is difficult to diagnose at the first seizure because of varying characteristics. We analyzed the different clinical characteristics and prognostic factors of idiopathic occipital lobe epilepsy. Methods: Forty-three patients who had at least two unprovoked seizures, no abnormalities on magnetic resonance imaging, no known etiology of seizure, and mainly occipital spikes on electroencephalography were retrospectively enrolled at the Korea University Medical Center. A good prognosis was defined as being seizure-free and taking two or less drugs for 1 year. Results: Among all patients, the proportion of PS was 44.2%, ICOE-G was 7.0% and unclassified group was 48.8%. The age at seizure onset was 4.5±2.6 years (mean±SD) in the PS group, and 8.3±2.1 years in the ICOE-G group. The follow-up duration was 10.8±6.0 years. The percentage that the initial diagnosis had not been changed was 66.7% in the PS group and 100% in the ICOE-G group. Among other related symptoms only emesis (P <0.001) and visual symptoms (P =0.007) had varying characteristics between the PS and ICOE-G groups. Patients with PS had a better prognosis than those with ICOE-G or unclassified group (odds ratio [OR]=58.8). Patients with 1 more autonomic symptoms had a worse prognosis (OR=3.8). Conclusion: This study showed that only symptoms of emesis and visual symptoms can differentiate between PS and ICOE-G. More autonomic symptoms were associated with worse prognosis in childhood occipital lobe epilepsy. [ABSTRACT FROM AUTHOR]

Introduction Amongst autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) families, SCN1A variants are the most common genetic cause. Initially regarded as a generalized form of epilepsy, the GEFS+ spectrum is now known to include some focal epilepsies, but it is generally not conceptualized as extending to the self-limited focal epilepsies of childhood, such as Panayiotopoulos syndrome. There are, however, three reports of SCN1A variants in Panayiotopoulos syndrome. We describe the variable clinical phenotypes that include the self-limited focal epilepsies of childhood, present in a large GEFS+ family, segregating a heterozygous SCN1A missense variant. Material and methods Electro-clinical details on all putatively affected family members were sought and blood samples were taken for genetic analysis. Two individuals were chosen for SCN1A testing. All 26 exons and exon–intron junctions were amplified, sequenced and analyzed. This was followed by pedigree segregation analysis of the variant identified. Results A pathogenic heterozygous SCN1A (c.2624C>A; p.Thr875Lys) variant was identified. Sixteen of the 18 variant positive family members were affected (88% penetrance): 8 with febrile seizures, 2 febrile seizures plus, 1 unclassified seizures and 5 with self-limited focal epilepsy of childhood. Of these, one was diagnosed with atypical childhood epilepsy with centrotemporal spikes and four with Panayiotopoulos syndrome. Discussion By characterizing the heterogeneous clinical phenotypes in a large, SCN1A mutation positive GEFS+ family, we conclude that the GEFS+ spectrum can extend to the self-limited focal epilepsies of childhood, including Panayiotopoulos syndrome, and in turn highlight the complex genotype-phenotype correlations associated with SCN1A -related epilepsies. [ABSTRACT FROM AUTHOR]

Purpose The aim was to identify the demographic, electroencephalographic findings, clinical features, especially ictal semiological symptoms of patients diagnosed with Panayiotopoulos Syndrome. Method The semiologic and EEG findings of 42 patients were reviewed. Statistical analysis was used to determine the frequencies of semiologic features and to define the symptom clusters. Results The most common clinical features were nausea (54.8%), vomiting (50.0%), pallor (50.0%), deviation of head and eyes (45.2%), generalized seizures (35.7%), ictal syncope (33.3%) and stomach ache (26.2%). Visual manifestations which were observed in 38.9% of the patients were amaurosis, flashes of colourful lights, flashes of brightful lights, visual hallucinations and blurring of vision. Autonomic status epilepticus was observed in 21.4% of the patients. Cluster analysis of 13 most common symptoms showed a tendency toward 3 clusters. Pallor constituted a subgroup on its own whereas nausea, vomiting, deviation of head and eyes tended to occur together in the second subgroup and the third subgroup included semiologic features some of which were atypical for PS. Conclusions A broad spectrum of typical and atypical clinical features might be observed in patients with PS. Some of the semiologic features of PS might have tendency to occur together. Overlapping of typical autonomic features with some of the atypical features might suggest that PS, RE and ICOE-G were the constituents of the same neurobiological spectrum. Our detailed data might contribute to the awareness of a wide range of variabilites in the electroclinical features of PS. [ABSTRACT FROM AUTHOR]

Benign occipital seizure syndromes are benign childhood epilepsy syndromes and are mainly of two types, Panayiotopoulos syndrome, an autonomic epilepsy and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) including the idiopathic photosensitive occipital lobe epilepsy. Although both these types are categorized as occipital seizures, they are distinct in presentation and management. They can also be tricky to diagnose as visual symptoms may not always be the presenting feature and it is also not very easy to elicit visual hallucinations during history taking. These seizures have a good response to treatment; however, there could be atypical evolution and refractoriness to treatment especially with ICOE-G. We describe three children who presented with visual and non-visual symptoms and the electroencephalography (EEG) in all the three cases showed occipital paroxysms. We have emphasized the clues in the clinical history and EEG leading to the diagnosis of these distinct epilepsy syndromes. We have also discussed the natural course of these epilepsy syndromes with some atypical evolution, which clinicians need to be aware of during treatment of these children.

The diagnosis of benign epilepsy syndrome should meet the following criteria: age-related and self-limited; good response to medication; and no obvious neurological sequelae after seizure. However, the current concept of benign epilepsy syndrome has been challenged because of the advancements in genetic studies, neuroimaging, and molecular techniques. Many studies have revealed that the prevalence of behavioral problems and learning difficulties as well as subtle cognitive deficits is higher among patients with benign epilepsy, compared with the normal population. Here, we review updated results of these studies to show the latest and broad comprehensive knowledge of benign epilepsy in children.

Objective: We sought to study the spatio-temporal propagation of occipito-frontal spikes in childhood epilepsies by voltage mapping and dipole localization and identify types of occipito-frontal spikes based on onset, propagation, and stability of their dipoles., Methods: Sleep EEG data of children, aged 1-14 years, with a minimum 1 h of recording from June 2018 to June 2021, were analyzed to identify occipito-frontal spikes. In total, 150 successive occipito-frontal spikes were manually selected from each EEG and using a source localization software were averaged using automated pattern matching with a threshold of 80%, and sequential 3D voltage maps of averaged spike were analyzed. Stability quotient (SQ) was calculated as the total number of averages/150. Stable dipole was defined as SQ ≥ .8. Dipole analysis was performed with principal component analysis using an age-appropriate template head model., Results: Ten children with occipito-frontal spikes were identified; five with self-limited epilepsy with autonomic seizures (SeLEAS) and five with non-SeLEAS epilepsies. Three types of occipito-frontal spikes were identified: (1) narrow occipito-frontal spikes with stable dipoles seen in all five children with SeLEAS which were "apparently" synchronous and bilateral clone-like with an occipito-frontal interval of 10-30 ms and a homogeneous propagation pattern from a unilateral medial parieto-occipital region to an ipsilateral mesial frontal region; (2) wide occipito-frontal spikes with stable dipoles seen in one child with non-SeLEAS and developmental and/or epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) with an occipito-frontal interval of 45 ms, caused by focal spike propagation from a deeper temporal focus to ipsilateral peri-rolandic cortex; and (3) wide occipito-frontal spikes with unstable dipoles seen in four children with non-SeLEAS lesional epilepsies with an occipito-frontal latency of >50 ms and heterogeneous propagation patterns with poor intra-individual dipole stability., Significance: We successfully identified different types of occipito-frontal spikes in childhood epilepsies. Although the term "occipito-frontal" is used to describe these spikes on the 10-20 EEG system, true propagation from occipital to frontal regions is not necessary. It is possible to differentiate idiopathic from symptomatic cases by analyzing the stability quotient and the occipito-frontal interval of occipito-frontal spikes., (© 2023 International League Against Epilepsy.)

To study clinical and EEG features of children with ictal vomiting and no underlying brain lesions (Panayiotopoulos syndrome). The subjects were 36 children aged 2-13 years. The onset of seizures occurred between 1 and 5 years of age. Fourteen children (38.8%) had a single seizure. Fourteen children (38.8%) had autonomic status epilepticus. Impairment of consciousness was reported in 30 (83.3%) children, eye deviation in 10 (27.7%) other autonomic symptoms and head deviation in 9, generalization in 8, visual symptoms in one child, and, speech arrest or hemifacial motor symptoms in 8 cases. The EEG showed occipital spikes or spike-wave complexes in 27 (75.0%) children, blocked by opening of the eyes in 8 (22.2%) cases. Nine patients (25%) also had rolandic spikes and 3 had extraoccipital spikes. Six (16.6%) patients had normal EEG. No clinical differences were observed between patients having occipital or extraoccipital spikes. In children only with autonomic seizures, the spikes are predominantly occipital but blockage by opening of the eyes is a less frequent feature. In some children there is an overlapping of different focal childhood idiopathic syndromes.Estudar aspectos clínico-eletrencefalográficos de crianças com vômito ictal e sem sinais de lesão cerebral (síndrome de Panayiotopoulos). Foram estudadas 36 crianças na faixa etária de 2-13 anos. O início das crises ocorreu entre 1 e 5 anos de idade. Quatorze crianças tiveram crise única. Status epilepticus foi observado em 14 (38,8%) casos. Distúrbio da consciência foi relatado em 83,3% das crianças, desvio ocular em 27,7%, outros sintomas autonômicos e desvio da cabeça em 26,4%, generalização em 23,5%, bloqueio da fala ou sintomas motores da hemiface em 23,5% das crianças e sintomas visuais em um caso. O EEG mostrou pontas ou complexos de ponta-onda em 27 (75,0%) casos, bloqueados pela abertura dos olhos em 8 (22,2%) pacientes. Nove pacientes tiveram também pontas rolândicas e 3, pontas extraoccipitais outras. O EEG foi normal em 6 crianças. Não houve diferença clínica entre as crianças com pontas occipitais e extraoccipitais. Em crianças com crises autonômicas as pontas foram de predomínio occipital, mas bloqueio pela abertura dos olhos foi pouco freqüente. Em alguns casos houve sobreposição de diferentes síndromes idiopáticas focais da infância.

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., ), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many 'treats' for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The term 'benign' is often used in connection with the IFEs and is increasingly being challenged. Certainly most of these disorders are not associated with the devastating cognitive and behavioural problems seen with early childhood epileptic encephalopathies, such as West or Dravet syndromes. However, it is clear that specific, and sometimes persistent, neuropsychological deficits in attention, language and literacy accompany many of the IFEs that, when multiplied by the large numbers affected, make up a significant public health problem. Understanding the nature, distribution, evolution, risk and management of these is an important area of current research. A corollary to such questions regarding comorbidities is the role of focal interictal spikes and their enduring impact on cognitive functioning. What explains the paradox that epilepsies characterised by abundant interictal epileptiform abnormalities are often associated with very few clinical seizures? This is an exciting area in both clinical and experimental arenas and will eventually have important implications for clinical management of the whole child, taking into account not just seizures, but also adaptive functioning and quality of life. For several decades, we have accepted an evidence-free approach to using or not using antiepileptic drugs in IFEs. There is huge international variation and only a handful of studies examining neurocognitive outcomes. Clearly, this is a situation ready for an overhaul in practice. Fundamental to understanding treatment is knowledge of aetiology. In recent years, there have been several significant discoveries in IFEs from studies of copy number variation, exome sequencing, and linkage that prompt reconsideration of the 'unknown cause' classification and strongly suggest a genetic aetiology. The IFE are strongly age-related, both with regards to age of seizure onset and remission. Does this time window solely relate to a similar age-related gene expression, or are there epigenetic factors involved that might also explain low observed twin concordance? The genetic (and epigenetic) models for different IFEs, their comorbidities, and their similarities to other neurodevelopmental disorders deserve investigation in the coming years. In so doing, we will probably learn much about normal brain functioning. This is because these disorders, perhaps more than any other human brain disease, are disorders of functional brain systems (even though these functional networks may not yet be fully defined). In June 2012, an international group of clinical and basic science researchers met in London under the auspices of the Waterloo Foundation to discuss and debate these issues in relation to IFEs. This Waterloo Foundation Symposium on the Idiopathic Focal Epilepsies: Phenotype to Genotype witnessed presentations that explored the clinical phenomenology, phenotypes and endophenotypes, and genetic approaches to investigation of these disorders. In parallel, the impact of these epilepsies on children and their families was reviewed. The papers in this supplement are based upon these presentations. They represent an updated state-of-the-art thinking on the topics explored. The symposium led to the formation of international working groups under the umbrella of 'Luke's Idiopathic Focal Epilepsy Project' to investigate various aspects of the idiopathic focal epilepsies including: semiology and classification, genetics, cognition, sleep, high-frequency oscillations, and parental resources (see ). The next sponsored international workshop, in June 2014, was on randomised controlled trials in IFEs and overnight learning outcome measures. [ABSTRACT FROM AUTHOR]

Objectives To provide insight into the pathophysiology of idiopathic childhood occipital epilepsies ( ICOEs), by mapping the contribution of retinotopic visual areas to the generation and sustainment of epileptic activity. Methods Thirteen patients affected by ICOEs (mean age = 10.9 years) underwent a video electroencephalography-functional magnetic resonance imaging ( EEG- fMRI) study. A flexible-related fMRI analysis was applied to estimate the shape of the blood oxygen level-dependent ( BOLD) response in each patient. Second-level analysis was performed using the interictal EEG discharge ( IED)-specific response shape for the ICOE group. The resulting fMRI t-maps were warped to the Population-Average, Landmark- and Surface-based (PALS)-B12 atlas in Caret. For localization purposes, functional results were plotted and compared against 19 retinotopic areas for each hemisphere. A correlation analysis was performed between the hemodynamic maps and electroclinical variables. Results The shape of the group-averaged hemodynamic response in ICOE patients showed an earlier time-to-peak and a more pronounced undershoot than the canonical hemodynamic response function ( HRF). The random-effect analysis showed positive hemodynamic changes in the bilateral temporooccipital network. With regard to the retinotopic subdivision of the visual cortex, the primary visual area was consistently spared. Conversely, an extensive involvement of the occipitotemporal cortex, including the fusiform gyrus, and the occipitoparietal areas was observed. Moreover, a linear relationship was detected between the occipital spike-density and BOLD increases at the postcentral gyrus and temporooccipital cortex. Significance Our data indicate that both the ventral and dorsal visual pathways are involved in spike generation in ICOEs, to extents that vary between patients, and reinforce the concept of benign childhood seizure susceptibility syndrome as a substrate for ICOEs. Finally, these results underscore the need for appropriate neuropsychological testing in these children, aimed at revealing selective impairments in functions subserved by both visual pathways. [ABSTRACT FROM AUTHOR]

Panayiotopoulos syndrome is a common idiopathic benign epilepsy that has a peak age of onset in early childhood. The syndrome is multifocal and shows significant electroencephalogram (EEG) variability, with occipital predominance. Although a benign syndrome often refers to the absence of neurological and neuropsychological deficits, the syndrome has recently been associated with cognitive impairments. Also, despite frequent occipital EEG abnormalities, research regarding the visual functioning of patients is less reported and often contradictory. The purpose of this study was to gain additional knowledge regarding the neurocognitive functioning of patients with Panayiotopoulos syndrome and specifically to address any visual processing deficits associated with the syndrome. Following diagnosis of the syndrome based on typical clinical and electrophysiological criteria, three patients, aged 5, 8, and 10 years were referred by epileptologists for neuropsychological evaluation. Neuropsychological findings suggest that the patients had notable impairments on visual memory tasks, especially in comparison with verbal memory. Further, they demonstrated increased difficulty on picture memory suggesting difficulty retaining information from a crowded visual field. Two of the three patients showed weakness in visual processing speed, which may account for weaker retention of complex visual stimuli. Abilities involving attention were normal for all patients, suggesting that inattention is not responsible for these visual deficits. Academically, the patients were weak in numerical operations and spelling, which both rely partially on visual memory and may affect achievement in these areas. Overall, the results suggest that patients with Panayiotopoulos syndrome may have visual processing and visual memory problems that could potentially affect their academic capabilities. Identifying such difficulties may be helpful in creating educational and remedial assistance programs for children with this syndrome, as well as developing appropriate presentation of information to these children in school. [ABSTRACT FROM AUTHOR]

In the last years, several cases of pediatric epilepsies misdiagnosed and treated as gastrointestinal (GI) disorders have been reported. The aim of this study was to evaluate both frequency and characteristics of these erroneous diagnoses. We identified children who had received a previous misdiagnosis of GI disorder out of 858 consecutive patients with a diagnosis of epilepsy at our hospital from 2010 to 2015. Misdiagnosis was observed in 21 patients (2.4%): 7 children with West syndrome, 10 with temporal lobe epilepsy, and 4 with Panayiotopoulos syndrome. The majority of children with a misdiagnosis (12/21) were younger than 1 year at epilepsy onset, and median diagnostic delay was 15.5 months. The most frequently diagnosed GI disorder was gastroesophageal reflux disease, especially in younger children. The study confirms that epilepsy in a significant percentage of children is wrongly identified and treated as GI disorders. In particular, epilepsy should be considered in the differential diagnosis of “atypical” gastroesophageal reflux in younger children in order to avoid serious prognostic consequences. [ABSTRACT FROM AUTHOR]

Summary Panayiotopoulos syndrome (PS) is usually not associated with neurodevelopmental problems. However, neuropsychological impairments may also be present in at least some of the patients with PS. On the other hand, several degrees of neuronal damage due to status epilepticus (SE) may occur in the cortex. We prospectively measured frontal and prefrontal lobe volumes using three-dimensional magnetic resonance imaging (3D-MRI)-based volumetry in patients with PS with and without SE. Moreover, the neuropsychological outcome in relation to the presence of SE in children with PS is also discussed. We studied six patients with a final diagnosis of PS, including three cases with SE and cognitive impairments/behavioral problems (SE group) and three cases without SE (non-SE group). Serial 3D-MRI studies were performed five times (at onset of clinical symptoms and 1–4 years after onset) in both the SE and non-SE patients. All patients were studied with a set of Wechsler Intelligence Scale for Children, version III (WISC-III) or Wechsler Preschool and Primary Scale of Intelligence tests and the Kaufman Assessment Battery for Children (K-ABC). Growth of the frontal and prefrontal lobes was slightly decreased for some time after SE episodes in the SE patients. Moreover, the prefrontal-to-frontal lobe volume ratio was stagnant for some time after SE in the SE patients. The scores on the neuropsychological tests were decreased in the SE patients. Moreover, the average WISC and K-ABC scores in the SE group remained low and did not reach the levels of the initial examinations. Occurrence of SE in patients with PS at least in some patients may be associated with retarded prefrontal lobe growth, which was related to neuropsychological problems and ultimately, neuropsychological outcomes. Treatment management may be required to prevent SE as much as possible to achieve optimal prognosis in PS at least in some patients. [ABSTRACT FROM AUTHOR]

Purpose: Benign childhood epilepsy with centro-temporal spikes (BECTS) and Panayiotopoulos syndrome (PS) have different pathophysiologies and show different types of seizures, yet they overlap in some important respects. In an attempt to understand the ways in which they differ from each other and overlap each other, we performed a detailed investigation on patients who had both characteristic types of seizure manifestations, namely, sylvian seizures and emetic seizures. Subjects and methods: We recruited consecutive subjects from the EEG database of outpatients who had visited our hospital between 2008 and 2010 and who had been diagnosed with BECTS or PS. As a result, 45 patients with BECTS and 50 patients with PS were selected from the database. Viewing the clinical records of these 95 patients, five patients were selected who had experienced both sylvian seizures and emetic seizures. Next, the clinical features and EEG findings of these five patients were retrospectively observed at the date of investigation: October 1, 2011. Results: We found that all the patients showed rolandic spikes when they had sylvian seizures, and occipital spikes or multifocal spikes when they had emetic seizures. We also report in detail on one patient who showed two different types of ictal EEG patterns: one of which started in the occipital area and the other of which was located in the rolandic area. Conclusion: Based on these findings, we conclude that widespread cortical hyperexcitability that includes the occipital area is necessary to produce the autonomic seizure manifestations seen in PS. [ABSTRACT FROM AUTHOR]