Self‐limited epilepsy with autonomic seizures (SeLEAS), previously known as Panayiotopoulos syndrome, presents with focal autonomic seizures in early childhood and is a self‐limited epilepsy syndrome. Previous articles have described the various manifestations of this syndrome, which are predominantly autonomic symptoms. In this article, we describe a child with an unusual initial presentation of SeLEAS. She was found resting on her elbows on all fours, a symptom that has not been previously reported and is different from the usually reported clinical presentations. This case underscores the importance of recognizing diverse clinical manifestations of SeLEAS to avoid misdiagnosis so that timely, appropriate management can be initiated.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by renal tubular and interstitial abnormalities and slow progressive loss of kidney function. Patients with ADTKD rarely progress to kidney failure in early childhood. A 7-year-old Japanese girl was admitted to the hospital due to afebrile seizures and was later diagnosed with Panayiotopoulos syndrome. Blood examinations showed that she had a serum creatinine level of 1.57mg/dL (Cr-eGFR 28 mL/min/1.73m²), consistent with chronic kidney disease stage 4. Ultrasonography showed bilateral small to normal-sized kidneys, with increased renal parenchymal echogenicity, poor corticomedullary differentiation, and small cysts. A panel exome sequencing targeting 187 genes identified a de novo pathogenic variant c.172G > T, p.Gly58Cys in the EGF-like domain 1 of the UMOD gene. Her parents did not possess this variant, leading to the diagnosis of a sporadic case of ADTKD-UMOD. Variants in the EGF-like domain 1 may lead to early progression to kidney failure. ADTKD-UMOD should be listed as a differential diagnosis of progressive kidney failure in early childhood, even in the absence of a family history.

Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy. The frequency, severity, and type of epileptic seizures vary according to the macro- and microrearrangements present. Even within a single chromosomal anomaly, we most often deal with a phenotypic spectrum. The aim of the study was to look for chromosomal rearrangements with a characteristic electroencephalographic pattern. Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q13.3 deletions, ring 20, Down syndrome, or Xp11.22-11.23 duplication. We also reviewed studies on epileptic seizures and typical electroencephalographic patterns described in certain chromosomal rearrangements, focusing on the quest for potential electroclinical biomarkers. The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22-11.23 duplication, 15q13.3 microdeletion, 1p36 terminal deletion, 5q14.3 microdeletion, and Xq28 duplication. The papers reviewed did not identify any specific interictal electroencephalographic patterns that were unique and significant biomarkers for a given chromosomal microrearrangement. The types of seizures described varied, with both generalized and focal seizures of various morphologies being reported. Patients with chromosomal anomalies may also meet the criteria for specific epileptic syndromes such as Infantile Epilepsy Spasms Syndrome (IESS, West syndrome): 16p13.11, 15q13.3 and 17q21.31 microdeletions, 5q inv dup. syndrome; Dravet syndrome (2q24.4 deletion), Lennox-Gastaut syndrome (15q11 duplication. 1q13.3, 5q inv dup.); or Self-Limited Epilepsy with Autonomic Features (SeLEAS, Panayiotopoulos syndrome: terminal deletion of 6q.n), Self-Limited Epilepsy with Centrotemporal Spikes (SeLECT): fragile X syndrome. It is essential to better characterize groups of patients to more accurately define patterns of epilepsy and EEG abnormalities. This could lead to new treatment strategies. Future research is required to better understand epileptic syndromes and chromosomal rearrangements. PLAIN LANGUAGE SUMMARY: This paper presents EEG recording abnormalities in patients with various gene abnormalities that can cause epilepsy. The authors summarize these EEG variations based on a literature review to see if they occur frequently enough in other chromosomal abnormalities (in addition to those already known) to be a clue for further diagnosis.

Objectives: The objective is to study the clinical features of self-limited focal epilepsies of childhood and to describe their electroencephalogram (EEG) findings and treatment. Methods: Twenty cases of self-limited focal epilepsies of childhood attending the Department of Neurology Government Medical College, Kozhikode, between August 2019 and July 2020 were included in the study. Details of history, examination, EEG, and treatment were collected. Results: The age at first seizure was 1.5–12 years. Most children were diagnosed with self-limited focal epilepsy of childhood with centrotemporal spikes. One child had Panayiotopoulos syndrome. Most of the seizures occurred during sleep. The majority were generalized tonic–clonic seizures. The majority had bilateral centrotemporal spikes in EEG. The child with Panayiotopoulos had bilateral spikes from the posterior head region. All were treated with antiepileptics. Conclusion: Self-limited focal epilepsy of childhood with centrotemporal spikes was the most common self-limited focal epilepsy of childhood. They had typical centrotemporal epileptiform discharges, seen bilaterally in most. The most commonly used drug was valproate. None had any major adverse effects on therapy.

Scalp EEG-recorded high-frequency oscillations can predict seizure activity in Panayiotopoulos syndrome

Self-Limited Epilepsy with Autonomic Seizures (SeLEAS): A Retrospective Case Series

Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy

ABSTRACT Childhood epilepsy with centro-temporal spikes (CECTS), Childhood absence epilepsy (CAE) and Panayiotopoulos syndrome (PS) are some of the most common pediatric epileptic syndromes. Despite the relatively benign (self-limited) course of epilepsy, current evidence suggests that these conditions are associated with an increased risk of neuropsychological and behavioral comorbidities. This study provides a cross-epileptic syndromes’ comparison reporting on the cognitive and behavioral profile of a cohort of 32 children with CECTS (n = 14), CAE (n = 10) and PS (n = 8), aged 6 to 15 years old. Frequent, although often subclinical cognitive difficulties involving attention, executive functions and academic abilities were found in children with CECTS and CAE, and to a lesser extent in PS. Internalizing symptoms (particularly anxiety) were more common in the PS group compared to CECTS and CAE based on parental reports. Correlational analysis revealed a significant correlation between phonemic fluency and seizure-free interval at the time of evaluation, suggesting a beneficial effect of epilepsy remission on this executive function measure in all the three groups. These results add to existing literature providing further detail on neuropsychological and behavioral peculiarities of children with CECTS, CAE, and PS. Moreover, the need for neuropsychological assessment as part of the standard childhood epilepsy evaluation is stressed. The results are discussed in the context of the current literature, highlighting areas of consensus and controversies related to the clinical management of these epileptic syndromes as well as directions for future research.

Panayiotopoulos syndrome: Unusual clinical manifestations

Implicit cognitive flexibility in self-limited focal epilepsy of childhood: An HD-EEG study

A 9-year-old boy presented to the emergency department with a seizure-like episode. There were no abnormalities noted on physical examination, with an intact neurologic examination. No focal defects were found.

Panayiotopoulos syndrome (PS) is a benign childhood epilepsy syndrome characterized by autonomic seizures and electroencephalogram (EEG) showing predominant occipital paroxysms. PS may easily be confused with many non-epileptic conditions such as atypical migraine, gastroenteritis, or syncope. We here present a 5 ½-year-old boy who presented to us with a history of head injury followed by vomiting, seizures, and prolonged unresponsiveness. Neuroimaging was normal, and on detailed history, it was clear that autonomic symptoms preceded the head injury and so an EEG was done. Interictal EEG showed bilateral occipital spikes and wave discharges with characteristic “fixation-off sensitivity.” Hence, the seizure semiology along with the EEG pattern helped to clinch the diagnosis. Parents were counseled about the benign nature of the condition

Panayiotopoulos Syndrome (PS) is a benign, common, age-dependent syndrome, with susceptibility to idiopathic vegetative seizures and autonomic status epilepticus. It is formally recognized by the International League against Epilepsy (ILAE). It is one of the three focal epileptic child benign syndromes next to rolandic epilepsy and idiopathic occipital epilepsy in children. It is characterized by its relative mildness and confusing manifestations. It is frequently misdiagnosed as non-epileptic disorders.

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

This commentary is on the original article by Wald et al. on pages 985–992 of this issue.

To determine neurocognitive performance and behavioural problems in children with Panayiotopoulos syndrome. All 18 children (10 females, 8 males; mean age 4y 7mo; SD 1y 10mo) diagnosed with Panayiotopoulos syndrome at the Kempenhaeghe Epilepsy Center in the Netherlands between 2010 and 2017 were analysed retrospectively. All underwent a neuropsychological/behavioural assessment, an academic assessment, and a 24-hour electroencephalogram. Mean full-scaleIQ (93.5; range 76-123; p=0.04) and performance IQ (93.2; range 76-126; p=0.04) were within the normal range, although significantly lower compared to the normative mean. Verbal IQ (96.3; range 76-118) and processing speed (96.1; range 74-114) were not significantly lower. Simple auditory/visual reaction times, visual attention, visual-motor integration, and verbal memory were significantly lower compared to normative values. On average, patients with Panayiotopoulos syndrome were 8 months behind in arithmetic speed and 11 months behind in reading speed for the number of months in school. Behavioural questionnaires revealed significantly higher scores on reported internalizing behavioural problems. Children with Panayiotopoulos syndrome demonstrated diffuse cognitive dysfunction in full-scale IQ, performance IQ, visual attention, visual-motor integration, and verbal memory. A high incidence of internalizing behavioural problems was reported. This strongly suggests neuropsychological and behavioural comorbidity in children with Panayiotopoulos syndrome. Children with Panayiotopoulos syndrome are at risk for cognitive deficits in various cognitive domains. Children with Panayiotopoulos syndrome are also prone to internalizing behavioural problems. Mild-to-severe academic underachievement was present in more than half of the children with Panayiotopoulos syndrome.

P.791 Obsessive-compulsive symptoms in a 6-year-old patient with Panayiotopoulos syndrome

High-frequency oscillations in a spectrum of pediatric epilepsies characterized by sleep-activated spikes in scalp EEG

Panayiotopoulos syndrome and Gastaut syndrome are distinct entities in terms of neuropsychological findings

Panayiotopoulos syndrome (PS) is a common benign, childhood, focal, seizure susceptibility syndrome presenting with mainly focal aware or focal impaired awareness autonomic seizures and autonomic status epilepticus that is under diagnosed in our locality. Increased awareness through reporting will aid diagnosis, reduce misdiagnosis and prevent aggressive and deleterious interventions. The classic clinical and electroencephalographic (EEG) features of three cases are described and the literature reviewed. The aim is to underscore the presence in our locality of this remarkably benign epileptic syndrome that must be differentiated from febrile seizures, encephalopathy, migraine or cardiogenic syncope.