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ABSTRACT Background: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. Objective: This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. Methods: This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. Results: The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. Conclusion: These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.

RESUMO Antecedentes: Epilepsia autolimitada com descarga centrotemporal, previamente designada por epilepsia benigna focal infantil com espículas centrotemporais, mostra sinais clínicos de envolvimento de áreas rolândicas, principalmente área inferior, que podem afetar o planejamento e a execução de sequências motoras. Objetivo: Este estudo visou avaliar a práxis oral em crianças com epilepsia autolimitada com espículas centrotemporais e comparar com o grupo de controle de mesma idade e grau de escolaridade. Métodos: Tratou-se de um estudo descritivo, com 74 crianças com epilepsia autolimitada com espículas centrotemporais selecionadas no ambulatório de neurologia infantil do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil, e 239 crianças do grupo controle da mesma faixa etária e grau de escolaridade. Todas as crianças foram submetidas à bateria de tarefas de movimento oral volitivo, que inclui movimentos orais simples e sequenciados. Resultados: A idade média das crianças com epilepsia era de 9,08 anos (desvio padrão - DP 2,55) e dos controles 9,61 anos (DP 3,12). Os resultados mostraram diferenças significativas entre os grupos, com desempenho mais fraco das crianças com epilepsia em comparação ao das crianças saudáveis, em movimentos simples e particularmente em movimentos sequenciados. Conclusão: Esses resultados podem ser atribuídos à imaturidade geneticamente determinada das estruturas corticais relacionadas com o planejamento motor em crianças com epilepsia autolimitada com espículas centrotemporais.

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BACKGROUND: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. OBJECTIVE: This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. METHODS: This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. RESULTS: The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. CONCLUSION: These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.

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PURPOSE: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. METHODS: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. RESULTS: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. CONCLUSIONS: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

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PURPOSE: Self-limited epilepsy with centrotemporal spikes, formerly called benign epilepsy with centrotemporal spikes, or rolandic epilepsy, is an age-related and well-defined epileptic syndrome. Since seizures associated with rolandic spikes are infrequent and usually occur during sleep, and repetitive or prolonged EEG recording for diagnostic purposes is not necessary for diagnosis, reports of ictal video-electroencephalographic seizures in this syndrome are rare. We aimed to show ictal video-EEG of typical rolandic seizures. METHODS: We report the ictal video-EEG recordings of two children with rolandic epilepsy who presented typical rolandic seizures during routine recording. RESULTS: Case 1: A 9-year-old boy, with normal development, had his first seizure at 8 years old, characterized by paresthesia in his left face, blocking of speech, and drooling. Carbamazepine was started with seizure control. Case 2: A 10-year-old boy, with normal development, started with focal seizures during sleep, characterized by eye and perioral deviation, and speech arrest at age of 7. He started using oxcarbazepine. Both patients underwent routine electroencephalography for electroclinical diagnosis and presented a seizure. CONCLUSION: Although self-limited epilepsy with centrotemporal spikes is a very common epileptic syndrome, seizure visualization is very difficult, and these videos may bring didactical information for recognition of this usual presentation of benign childhood focal epilepsy.

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PURPOSE: The purpose of this study was to demonstrate the association between benign rolandic epilepsy of childhood (BREC) and central auditory processing disorders (CAPDs) and to test the hypothesis that an early onset of BREC could be associated with more cases of CAPD. METHOD: This study has a retrospective cross-sectional design conducted from January 2006 to January 2016 including 93 patients with BREC and without intellectual disability, dyslexia, and attention-deficit hyperactivity disorders. All patients were evaluated for central auditory processing (CAP), and its presence or absence was compared with age of seizure onset. RESULTS: In all patients, audiometric test results were normal, and in 43 cases (46.2%), CAPD was detected. There was no significant statistical difference in the mean age of seizure onset. CONCLUSION: A significant proportion of children with BREC will have a diagnosis of CAPD at school age.

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BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India. RESULTS: We identified 84 patients with one or more rare CNVs, and, within this group, 14 (7.5%) with recurrent risk factor CNVs and 15 (8.0%) with likely pathogenic CNVs. Nine patients carried recurrent hotspot CNVs including at 16p13.11 and 1p36, with the most striking finding that four individuals (three from Sardinia) carried a duplication, and one a deletion, at Xp22.31. Five patients with RE carried a rare CNV that disrupted genes associated with other epilepsies (KCTD7, ARHGEF15, CACNA2D1, GRIN2A and ARHGEF4), and 17 cases carried CNVs that disrupted genes associated with other neurological conditions or that are involved in neuronal signalling/development. Network analysis of disrupted genes with high brain expression identified significant enrichment in pathways of the cholinergic synapse, guanine-exchange factor activation and the mammalian target of rapamycin. CONCLUSION: Our results provide a CNV profile of an ethnically diverse cohort of patients with RE, uncovering new areas of research focus, and emphasise the importance of studying non-western European populations in oligogenic disorders to uncover a full picture of risk variation.

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In this study, we aimed to evaluate the attentional and executive functions in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS) with and without attention-deficit hyperactivity disorder (ADHD) compared with controls and compared with patients with ADHD without epilepsy. We evaluated 12 patients with BCECTS and ADHD (66.7% boys; mean age of 9.67years); 11 children with non-ADHD BCECTS (63.6% boys; mean age of 11.91years); 20 healthy children (75% boys; mean age of 10.15years); and 20 subjects with ADHD without epilepsy (60% boys; mean age of 10.9years). We used a comprehensive battery of neuropsychological tests to evaluate attentional and executive functions in their broad domains. Patients with BCECTS and ADHD had worse performance in Conners' Continuous Performance Test II (reaction time standard error [p=0.008], variability [p=0.033], perseverations [p=0.044] and in reaction time interstimuli interval [p=0.016]). Patients with ADHD showed worse performance in Trail Making Test B errors [p=0.012]. In conclusion, patients with BCECTS and ADHD had worse executive and attentional performance compared with controls than non-ADHD patients with BCECTS. Regardless of the presence of epilepsy, ADHD also negatively impacted executive and attentional functions but in different executive subdomains compared with patients with epilepsy.

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PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome. Generalized spike-and-wave discharges were observed in all patients when awake and during sleep (100%). During the evolution no particular electroclinical pattern was observed. The patients responded well to antiepileptic drugs, such as valproic acid and levetiracetam. Outcome was good in all patients. CONCLUSIONS: We found evidence that patients with BRE may have generalized EEG discharges at onset as the sole manifestation lasting throughout the course of the syndrome. In some, focal paroxysms developed later. The course was benign. In our group of patients, clinical features and evolution were similar to those of typical cases of BRE. Response to valproic acid and levetiracetam was found to be particularly good.

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La epilepsia benigna con puntas centrotemporales o rolándicas se caracteriza por crisis parciales motoras en la infancia y un electroencefalograma en que observan descargas de puntas en las regiones centrotemporales medias. Ha sido reconocida como benigna, debido a la ausencia de déficits neurológicos evidentes; sin embargo, en los últimos años en la literatura médica internacional han aparecido varias publicaciones que cuestionan su evolución favorable. El objetivo de este trabajo es actualizar algunos criterios que no concuerdan con el buen pronóstico referido inicialmente. Representa una etapa fundamental en la historia de la epilepsia, debido a que es la primera vez que se describió una epilepsia focal o parcial en la que se presumía que no existía una lesión cortical subyacente. La evolución de esta forma de epilepsia puede mostrar elementos que niegan su benignidad. Se recomienda en un futuro efectuar en nuestro servicio un estudio que confirme los criterios expuestos en la literatura médica internacional(AU)

Benign epilepsy with centrotemporal spikes, aka benign rolandic epilepsy, is characterized by partial motor crisis in childhood and electroencephalography showing point discharges in medial centrotemporal regions. The condition has been recognized as benign due to the absence of evident neurological deficits. However, in recent years several publications have appeared in international medical literature in which its favorable evolution is questioned. The objective of the present study is to update some criteria differing from the good prognosis initially stated. It constitutes a fundamental stage in the history of epilepsy, since for the first time a case of focal or partial epilepsy was being described in which presumably there did not exist an underlying cortical lesion. The evolution of this form of epilepsy may display features denying its benignity. It is recommended that in the future a study be conducted in our service confirming the criteria expounded in international medical literature(AU)

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Introducción: La epilepsia benigna de la infancia con puntas centro-temporales es el síndrome epiléptico focal más común en pediatría. No hay datos sistematizados en Colombia sobre esta enfermedad. Objetivo: Describir las características clínicas, electroencefalográficas y familiares de este síndrome. Materiales y métodos: Estudio descriptivo, retrospectivo, de corte transversal, con análisis exploratorio. Se incluyeron pacientes <18 años que consultaron a 2 laboratorios de electroencefalografía (EEG) en Medellín, Colombia, de 2011 a 2016, que cumplieron criterios diagnósticos de epilepsia rolándica, con EEG que mostraba puntas centro-temporales con máxima negatividad en los electrodos centro-temporales (C3, C4 y T3,T4), con activación en sueño. Se calcularon las frecuencias y proporciones para variables cualitativas y promedios y desviaciones estándar (DE) para las cuantitativas. En el análisis exploratorio se utilizaron las pruebas de chi cuadrado, test exacto de Fisher y test Shapiro ­Wilk. Resultados: Se incluyeron 44 pacientes, 46% mujeres, 54% hombres. La edad promedio de inicio de la epilepsia fue 6,6 años (DE: 2,3). Las manifestaciones clínicas más frecuentes de esta epilepsia fueron: Sialorrea 27% y sonidos faríngeos 27%. Las crisis se presentaron durante el sueño en 43%, no muy diferente del porcentaje en vigilia, 46%. El 76% había presentado máximo 4 crisis. No hubo diferencias respecto a la lateralidad de la actividad epileptiforme en el EEG. La fase del sueño en la que más se presentó la actividad epileptiforme fue N2. En el 57%, la actividad se presentaba en salvas. Solo el 20% presentó actividad extra centro-temporal. El 32% de los pacientes tenía antecedente familiar de epilepsia. Las comorbilidades más frecuentes fueron bajo rendimiento escolar 34%, trastorno del lenguaje 25% y TDAH 23%. El 61% de los pacientes recibía tratamiento farmacológico y el medicamento más usado fue la carbamazepina en 25%. En el análisis exploratorio se encontró que la frecuencia de los complejos POL era más baja: 3,3 Hz, en los pacientes con trastorno del lenguaje que en los pacientes sin esta comorbilidad: 3,6 Hz, (p=0.02). Conclusión: Aunque el tamaño de la muestra de este estudio no es grande, tiene el valor de ser la primera descripción clínica, electroencefalográfica y familiar de la epilepsia rolándica en Colombia. Las características clínicas son similares a lo descrito en otras series, pero con mayor proporción de generalización de las crisis. La frecuencia en Hz de los complejos POL estuvo por encima de lo previamente informado. El antecedente familiar de epilepsia fue 3 veces más alto en los pacientes de este estudio, lo que podría sugerir que existen factores genéticos y/o ambientales comunes entre este síndrome y otros tipos de epilepsia en nuestra población. Las comorbilidades más frecuentes fueron bajo rendimiento escolar, TDAH y trastorno del lenguaje, los cuales se deben buscar activamente en estos pacientes. La frecuencia en Hz de los complejos POL podría ser un marcador de pronóstico respecto al lenguaje en pacientes con epilepsia rolándica.

Introduction: Benign epilepsy with centro-temporal spikes (BECTS) is the most frequent focal epileptic syndrome in childhood. There are no systematic data about it at Colombia. Our objective was to describe the clinical, electroencephalographic and familiar characteristics of this syndrome. Materials and methods: Retrospective, descriptive, cross- sectional study, with exploratory analysis. Patients admitted were children under 18 years of age, who had attended one of two selected electroencephalography laboratories at Medellín, Colombia, from 2011 to 2016, and filled diagnostic criteria for rolandic epilepsy, EEG with centro-temporal spikes, maximal electronegativity at C3, C4 and T3, T4 electrodes, and activation during sleep. Frequencies and proportions were calculated for qualitative variables, averages and standard deviation for quantitative variables. Chi square, Fisher test and Shapiro-Wilk test were used for exploratory analysis. Results: 44 patients were included, 46% women and 54% men. Average age when epilepsy started was 6.6 years old (SD: 2.3). Most frequent symptoms were: Hypersalivation and oropharyngeal sounds with 27% each. Seizures presented during sleep in 43% with a similar proportion during awake. 76% had presented 4 seizures top. There were no differences in the side of epileptiform activity in EEG. N2 was the sleep phase with more epileptiform activity. In 57% of cases the epileptiform activity presented in clusters. Only 20% had extra centrotemporal activity. There was familiar history of epilepsy in 32%. The most frequent comorbidities were poor school performance: 34%, speech disorder: 25% and ADHD: 23%. 61% of patients were on treatment, and the most frequent medication was carbamazepine: 25%. The exploratory analysis showed that the frequency of spike and slow wave complexes were slower: 3.3 Hz, in patients with speech disorder than in patients without it: 3.6 Hz (p=0.02). Conclusion: This is the first clinical, electroencephalographic and familiar description of rolandic epilepsy in our country. Clinical presentation was similar to other reports, but our patients had more generalization of seizures. The frequency of spike and slow wave complexes (Hz) were in general above of previous reports. Family history of epilepsy was three times higher in patients of this study, suggesting that there are some common genetic and environmental factors between this syndrome and other types of epilepsy in our population. The most frequent comorbidities were poor school performance, speech disorder, and ADHD. This should be carefully evaluated in patients with this syndrome. The frequency of spike and slow wave complexes (Hz) could be a marker of speech prognosis in patients with rolandic epilepsy.

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