Síndrome de apnea del sueño en población colombiana con epilepsia empleando la escala de apnea del sueño del cuestionario de trastornos del sueño / Sleep apnea syndrome in a Colombian population with epilepsy using the Sleep Apnea Scale of the Sleep Disorders Questionnaire

Introducción: La epilepsia es un desorden caracterizado por la predisposición a generar crisis epilépticas, mientras que el síndrome de apnea del sueño (SAOS) ha sido reconocido como un desorden crónico de colapso intermitente de la vía aérea que genera hipoxia recurrente. En este trabajo se aplicó la escala de trastornos del sueño (Sleep Apnea Scale of the Sleep Disorders Questionnaire SA-SDQ), previamente validada en inglés para pacientes con epilepsia, a fin de determinar su capacidad para detectar apnea de sueño en nuestra población. Materiales y métodos: En una primera etapa se realizó la adaptación transcultural de la escala SA-SDQ en castellano, provista por los autores, al español colombiano. Luego se recopiló la información de los pacientes en quienes se realizó polisomnografía entre mayo y agosto del 2022 y se determinó el valor de corte para diagnosticar SAOS con la escala SA-SDQ. Resultados: Cuarenta pacientes pudieron realizarse la polisomnografía, de los cuales 30 (75 %) tuvieron índices de apnea-hipopnea superiores a 5, lo que indica SAOS. El área bajo la curva fue 0,790 y la puntuación SA-SDQ de 21 proporcionó una sensibilidad del 73,3 % (IC 53,83-87,02 %) y una especificidad del 80 % (IC 44,2-96,5 %). La consistencia interna fue aceptable (α = 0,713). Conclusiones: La escala SA-SDQ es un instrumento útil para tamizar SAOS en la población colombiana que padece epilepsia. Nuestros resultados indican que los puntos de corte sugeridos anteriormente (2936 para hombres y 26-32 para mujeres) pueden ser demasiado altos para nuestra población. Sugerimos un punto de corte de 21 para ambos.

Introduction: Epilepsy is a disorder characterized by a predisposition to have epileptic seizures, while sleep apnea syndrome (OSAS) has been recognized as a chronic disorder of intermittent collapse of the airway that generates recurrent hypoxia. In this work, the sleep disorders scale (SA-SDQ) previously validated in English for patients with epilepsy was applied to determine its ability to detect sleep apnea in our population. Materials and methods: In the first stage, the cross-cultural adaptation of the SA-SDQ scale in Spanish provided by the authors was carried out into Colombian Spanish. then the information of the patients in whom polysomnography was performed between May and August 2022 was collected and the cut-off value was determined to diagnose OSAS with the SA-SDQ scale. Results: 40 patients were able to undergo polysomnography, of which 30 (75 %) had apnea-hypopnea indices greater than five, indicating OSAS. The area under the curve was 0.790 and the SA-SDQ score of 21 provided a sensitivity of 73.3 % (CI 53.83-87.02 %) and a specificity of 80 % (CI 44.2-96, 5 %). The internal consistency was acceptable (α = 0.713). Conclusions: The SA-SDQ scale is a useful instrument for screening OSAS in the Colombian population suffering from epilepsy. Our results indicate that the previously suggested cut-off points (29-36 for men and 26-32 for women) may be too high in our population. We suggest a cutoff of 21 for both.

Riesgo neuropsicológico en epilepsia del lóbulo temporal / Neuropsychological risk in temporal lobe epilepsy

Introducción: Los síntomas neuropsicológicos son una preocupación importante para los pacientes con epilepsia y pueden llegar a ser muy influyentes en la percepción de calidad de vida. En el caso de la epilepsia del lóbulo temporal, existen muchas variables que influyen en el desempeño cognitivo de los pacientes, entre las más importantes se encuentran la etiología, la edad de inicio, la duración de la enfermedad y la frecuencia de crisis; sin embargo, una de las variables más importantes es la lateralidad de la epilepsia. Está claramente demostrado que los síntomas cognitivos de la epilepsia del lóbulo temporal varían en función del hemisferio cerebral afectado. Contenido: La epilepsia del lóbulo temporal es una de las principales epilepsias focales que es susceptible de manejo quirúrgico, y, en este sentido, el tipo de procedimiento también tiene una gran importancia en el desenlace cognitivo de estos pacientes. En este artículo, realizamos una revisión narrativa de la literatura, con el objetivo de describir el riesgo neuropsicológico relacionado no solamente con la epilepsia del lóbulo temporal per se, sino también con las intervenciones quirúrgicas que se realizan en pacientes refractarios a la medicación. Conclusiones: Es importante conocer los conceptos sobre las implicaciones del impacto cognitivo en los pacientes con epilepsia del lóbulo temporal antes de tomar decisiones quirúrgicas en pacientes refractarios, así como entender que el tipo de cirugía también influye en su desempeño cognitivo. Se debe buscar un equilibrio entre la libertad de crisis y las posibles secuelas neuropsicológicas posquirúrgicas.

Introduction: Neuropsychological symptoms are a major concern for patients with epilepsy and can highly influence the perception of quality of life. In the case of temporal lobe epilepsy, there are many variables that impact the cognitive performance of these people, among the most important are the etiology, the age of onset, the duration of the disease and the frequency of seizures, however, one of the most important variables is the lateralization of the seizure. It has been demonstrated that the cognitive symptoms of temporal lobe epilepsy vary depending on the affected cerebral hemisphere. Contents of the review: Temporal lobe epilepsy is one of the main focal epilepsies that is susceptible to surgical management, and the type of surgery also has great importance in the cognitive outcomes of these patients. In this article, we carry out a narrative review of the literature in order to describe the neuropsychological risk related not only to temporal lobe epilepsy per se, but also to surgical interventions performed in drug-resistant patients. Conclusions: It is important to know the concepts about the implications of cognitive impact in patients with temporal lobe epilepsy before making surgical decisions in refractory patients and to understand that the type of surgery also influences the cognitive performance of these patients. A balance must be sought between the freedom of seizures and the possible postoperative neuropsychological sequelae.

Uso de cannabidiol para el control de síntomas refractarios en síndromes convulsivos y enfermedades neurodegenerativas / Use of cannabidiol for the control of refractory symptoms in convulsive syndromes and neurodegenerative diseases

Como parte de las terapias alternativas para el control de síntomas refractarios en enfermedades avanzadas destaca el uso de cannabidiol. Este se ha estudiado en patologías como enfermedad de Alzheimer, Parkinson y trastornos convulsivos. Los síndromes convulsivos están presentes en todos los grupos etarios. Dentro de este, la epilepsia es refractaria hasta en un 40 % de los pacientes, quienes han demostrado disminución en la frecuencia de convulsiones con el uso concomitante de cannabidiol y antiepilépticos convencionales, con efectos secundarios leves, como diarrea y somnolencia. Con el objetivo de determinar el uso del cannabidiol para el control de síntomas neurológicos refractarios en pacientes con síndromes convulsivos y enfermedades neurodegenerativas, se realizó una búsqueda bibliográfica en Pubmed, Scopus y Embase. Se incluyeron metaanálisis, artículos originales, revisiones sistemáticas y bibliográficas, y documentos de la Organización Panamericana de la Salud, publicados entre 2017 y 2022. Los efectos del cannabidiol lo convierten en una alternativa, adicional a la terapéutica convencional, para el control de síntomas en trastornos neurológicos, disminuyendo de forma sostenida el número total de episodios con un perfil de seguridad aceptable. Existe limitada información respecto al uso de cannabidiol en enfermedades neurodegenerativas, por lo que no se ha evidenciado su efectividad

As part of the alternative therapies for the control of refractory symptoms in advanced diseases, the use of cannabidiol stands out. It has been studied in pathologies such as Alzheimer's disease, Parkinson's disease, and convulsive disorders. Convulsive syndromes are present in all age groups. Within this group, epilepsy is refractory in up to 40 % of patients, who have shown a decrease in the frequency of seizures with the concomitant use of cannabidiol and conventional antiepileptics, with mild side effects such as diarrhea and drowsiness. To determine the use of cannabidiol for the control of refractory neurological symptoms in patients with seizure syndromes and neurodegenerative diseases, a literature search was performed in PubMed, Scopus, and Embase. Meta-analyses, original articles, systematic and literature reviews, and documents from the Pan American Health Organization, published between 2017 and 2022, were included. The effects of cannabidiol make it an alternative, in addition to conventional therapeutics, for symptom control in neurological disorders, sustainably decreasing the total number of episodes with an acceptable safety profile. There is limited information regarding the use of cannabidiol in neurodegenerative diseases, the reason its effectiveness has not been demonstrated.

Application of low glycemic index treatment in children with refractory epilepsy / 中华实用儿科临床杂志

Ketogenic diet (KD) has been applied to the treatment of epilepsy for the last century, although it has been underestimated due to the complicated preparation for beginners and the emergence of antiepileptic drugs.Due to the limitations of the mechanism of drug treatment of epilepsy, and the pathogenesis of epilepsy is complex, the incidence of drug-resistant epilepsy has not improved with the development of drugs over the years.KD plays an anti-epileptic and neuroprotective role through a variety of mechanisms, which is also effective to refractory epilepsy.As a result, KD has been emphasized again.Classical KD has high fat content and complicated operation.When the training is not fine enough, many patients cannot understand and qualify the operation.To overcome the disadvantages of the conventional KD, a modified KD has been developed that is closer to a normal diet structure and has a good tolerance, namely the low glycemic index treatment (LGIT). LGIT is featured by a slightly higher intake of carbohydrates, simplified meal preparation, improved taste and tolerance.This review aims to describe the mechanism, clinical outcomes and indications of LGIT in children with refractory epilepsy.

O uso do canabidiol em crianças com epilepsia resistente a medicamento e a diminuição na frequência das crises: revisão rápida / The use of cannabidiol in children with drug-resistant epilepsy and the decrease in the frequency of seizures: quick review

Uso de canabidiol (CDB) medicinal presente no óleo de canabis. Indicação: Tratamento de crianças portadoras de epilepsia refratária resistente a medicação e síndromes graves decorrentes. Pergunta: O uso do canabidiol em crianças com epilepsia resistente a medicamentos apresentaria diminuição na frequência de crises convulsivas? Objetivo: Investigar a eficácia e a segurança do canabidiol, em comparação a placebo, na manutenção da remissão em crianças com epilepsia refratária. Métodos: Revisão rápida de revisões sistemáticas, por meio de buscas bibliográficas realizadas nas bases PUBMED, SCOPUS, BVS, Cochrane Library. Foram utilizadas estratégias de buscas com vocabulário padronizado e avaliação da qualidade metodológica usando o checklist AMSTAR 2. Resultados: Foram selecionadas duas revisões sistemáticas que atendiam aos critérios de elegibilidade. O CDB quando comparado ao placebo reduziu 50% das convulsões para epilepsia refrataria (RR 1.69 [1.20 ­ 2.36]), para a síndrome de Lennox-Gastaut o RR foi 2.98 (IC 95%, 1.83 - 4.85) e para a síndrome de Dravet o RR foi 2.26 (IC 95% ,1.38 - 3.70). O CDB pode resultar em uma diminuição no apetite em dosagens maiores (RR = 2,10, IC 95% [0,96­4,62], embora não apresente diferença de efeito dos grupos comparadores. Conclusão: Duas revisões sistemáticas recentes o CDB quando comparado ao placebo reduziu 50% das convulsões para epilepsia refrataria e síndromes graves. Entretanto, existem poucos ensaios clínicos publicados na área

: Use of cannabidiol (CBD) present in cannabis oil. Indication: Treatment of children with drug-resistant refractory epilepsy and severe syndromes resulting. Question: Would the use of cannabidiol in children with drug-resistant epilepsy lead to a decrease in seizure frequency? Objective: to investigate the efficacy and safety of cannabidiol, compared to placebos, in maintaining remission in children with refractory epilepsy. Methods: Rapid review of systematic reviews, through a bibliographical search carried out in the PUBMED, SCOPUS, BVS, Cochrane Library databases. Predefined search strategies were followed, and the methodological quality of the included studies was evaluated using the AMSTAR 2 tool. Results: Two systematic reviews were selected, which met the eligibility criteria. CBD when compared to placebo reduce 50% of seizures for refractory epilepsy (RR 1.69, IC 95% [1.20 ­ 2.36]), for Lennox-Gastaut Syndrome the RR was foi 2.98 (IC 95%, 1.83 - 4.85) and for Dravet Syndrome o RR FOI 2.26 (IC 95% ,1.38 - 3.70). CBD may result in appetite decrease using high doses (RR = 2.10, 95% IC [0.96­ 4.62], with no statistical difference. Conclusion: Two recent systematics, CBD, when compared to placebo, presented 50% of seizures for refractory epilepsy and severe syndromes. However, there are few clinical trials published in the area

Eficácia e segurança do Felbamato comparado a medicamentos disponíveis no SUS para o tratamento da epilepsia refratária em crianças e adultos: revisão rápida de evidências / Effectiveness and safety of Felbamate compared to drugs available in SUS for the treatment of refractory epilepsy in children and adults: rapid evidence review

Tecnologia: Felbamato. Indicação: Tratamento de epilepsia refratária. Pergunta: O Felbamato é mais eficaz e seguro comparado a anticonvulsivantes disponíveis no Sistema Único de Saúde (SUS) em pacientes com epilepsia refratária? Métodos: Revisão rápida de evidências (overview) de revisões sistemáticas, com levantamento bibliográfico realizado na base de dados PUBMED, utilizando estratégia estruturada de busca. A qualidade metodológica das revisões sistemáticas foi avaliada com AMSTAR-2 (Assessing the Methodological Quality of Systematic Reviews). Resultados: Foram selecionadas 2 revisões sistemáticas, que atendiam aos critérios de inclusão. Conclusão: O felbamato não demonstrou ser uma opção mais benéfica que os demais medicamentos disponíveis no SUS no tratamento de epilepsia refratária a medicamentos. Salienta-se que a maior parte das evidências eram de baixa certeza

Technology: Felbamate. Indication: Treatment of refractory epilepsy. Question: Is felbamate more effective and safer compared to anticonvulsants available in Brazilian Public Health System in patients with refractory epilepsy? Methods: A rapid review of evidence (overview) of systematic reviews, with bibliographic survey carried out in the PUBMED database, using a structured search strategy. The methodological quality of systematic reviews was assessed using AMSTAR-2 (Assessing the Methodological Quality of Systematic Reviews). Results: Two systematic reviews that met the inclusion criteria were selected. Conclusion: Felbamate did not prove to be a more beneficial option than the other drugs available in the Brazilian Public Health System in the treatment of drug-refractory epilepsy. It should be noted that most of the evidence was of low certainty

Inteligencia artificial en la evaluación y manejo de pacientes con epilepsia / Artificial intelligence in the evaluation and management of patients with epilepsy

RESUMEN La epilepsia es una enfermedad que frecuentemente conlleva significativos niveles de morbi-mortalidad, afecta seriamente la calidad de vida y, en cerca de un tercio de los pacientes, es refractaria a diversos tratamientos. La inteligencia artificial (IA) ha beneficiado el estudio, tratamiento y pronóstico de los pacientes con epilepsia a través de los años. Estos logros abarcan diagnóstico, predicción de crisis automatizada, monitoreo avanzado de crisis epilépticas y electroencefalograma, uso de recursos genéticos en manejo y diagnóstico, algoritmos en imagen y tratamiento, neuromodulación y cirugía robótica. La presente revisión explica de forma práctica los avances actuales y futuros de la inteligencia artificial, rama de la ciencia que ha mostrado resultados prometedores en el diagnóstico y tratamiento de pacientes con epilepsia.

SUMMARY Epilepsy is a condition that frequently coexists with significant morbi-mortality levels, seriously affects the quality of life and, in up to one third of patients, is refractory to a variety of treatment approaches. Artificial intelligence (AI) has largely benefitted the study, treatment, and prognosis of patients with epilepsy through the course of recent years. These achievements applied the fields of diagnosis, automated seizure prediction, advanced seizure monitoring and electroencephalogram, use of genetics in diagnosis and management, imaging algorithms in the treatment, neuromodulation, and robotic surgery. This review conveys the actual and future directions of AI. a branch of science that has shown promising results in the treatment and diagnosis of patients with epilepsy.

Three cases of febrile infection-related epilepsy syndrome / 中华实用儿科临床杂志

Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.

Advances in the treatment of refractory epilepsy in children / 国际儿科学杂志

Epilepsy is one of the most common neurological diseases, affecting about 70 million people worldwide, more than half of whom are children.Even though seizure-free is largely achieved by anti-seizure medications, there are still one-third of patients with epilepsy who continue to experience seizure attacks and develop into refractory epilepsy(RE). RE can seriously impair the life-quality of children and their families, and impose a substantial burden on society.Therefore, it is of great significance to explore and discover novel therapeutic methods and strategies for RE in children.This review is aimed to introduce several current and emerging therapeutic approaches for RE, including some new anti-seizure medications, ketogenic diet, neurosurgery, neurostimulation and emerging precision medicine, and provide new treatment strategy to children with RE.

Research progress of anti-seizure medication combination therapy / 中华神经科杂志

Epilepsy is one of the most common and disabling chronic neurological diseases. About 70% of patients with epilepsy can be fully controlled by available anti-seizure medications, while the remaining 20%-30% are drug-resistant. Drug-resistant epilepsy is also known as refractory epilepsy, and refractory epilepsy usually requires a combination of anti-seizure medications. A reasonable combination of anti-seizure medications can reduce the frequency or even the freedom of seizures. To this end, this article summarized the general principles of anti-seizure medications combination therapy, tolerance and drug interaction, combination and synergism in human studies, and the application of non-ionic anti-seizure medications in combination therapy of refractory epilepsy by reviewing the literature, to improve clinicians′ understanding of combination therapy with anti-seizure medications for refractory epilepsy.

Rehabilitación neuropsicológica en pacientes pre y posquirúrgicos de lobectomía temporal por epilepsia fármaco resistente / Neuropsychological rehabilitation in pre- and post-surgical temporal lobectomy patients for drug-resistant epilepsy

Introducción. La epilepsia del lóbulo temporal suele producir déficits mnésicos, atencionales y del lenguaje. En la mayoría de los casos, se trata con fármacos an-tiepilépticos, pero falla en un tercio de ellos. Por tal razón, una opción terapéutica es la lobectomía temporal, que contribuye a menguar las crisis. Sin embargo, los procedimientos quirúrgicos pueden conllevar secuelas, entre ellas consecuencias a nivel cognitivo. Para contrarrestar dichos efectos, se acostumbra llevar a cabo una rehabilitación neuropsicológica que va en pro de recuperar, fortalecer y sostener en el tiempo habilidades que ya venían afectándose desde antes de la cirugía. Objetivo. Brindar una reflexión en torno a la intervención neuropsicológica de la epilepsia en el lóbulo temporal. Método. La reflexión sobre el tema parte de un interés clínico y posteriormente se fue ampliando a partir de la revisión de la literatura en diferentes bases de datos como PubMed, Medline y Scopus entre los años 2000 y 2021. Reflexión. Son amplias las opciones terapéuticas a nivel neuropsicológico y pueden contribuir de manera positiva en la recuperación del paciente, por lo cual los profe-sionales requieren conocer las posibilidades de ello para poder utilizar las estrategias más adecuadas según cada caso y brindar opciones que beneficien la calidad de vida, teniendo en cuenta que ninguna es más efectiva que otra. Conclusión. Como resultado, se presenta un panorama general de la rehabilitación neuropsicológica en pacientes pre y posquirúrgicos con lobectomía, haciendo énfasis en la rehabilitación neuropsicológica tradicional y la rehabilitación basada en inteli-gencia artificial, realidad virtual y computación

Introduction. Temporal lobe epilepsy usually produces mnestic, attentional, and language deficits. In most cases, it is treated with antiepileptic drugs, but one third of them fail, so one therapeutic option is temporal lobectomy, which helps to reduce seizures. However, surgical procedures can have sequelae, including cognitive con-sequences. To counteract these effects, neuropsychological rehabilitation is usually carried out in order to recover, strengthen, and sustain in time skills that were already affected before the surgery. Objective. To provide a reflection on the neuropsychological intervention of tem-poral lobe epilepsy. Method. The reflection on the subject starts from a clinical interest and was sub-sequently expanded from the review of the literature in different databases such as PubMed, Medline, and Scopus between 2000 and 2021. Reflection. There are many therapeutic options at the neuropsychological level and they can contribute positively to the patient's recovery, so professionals need to know the possibilities in order to use the most appropriate strategies according to each case and provide options that benefit the quality of life, taking into account that none is more effective than the other one.Conclusion. As a result, an overview of neuropsychological rehabilitation in pre- and post-surgical patients with lobectomy is presented, with emphasis on traditional neuropsychological rehabilitation and rehabilitation based on artificial intelligence, virtual reality, and computation

Efficacy and safety of levetiracetam as adjunctive therapy for refractory focal epilepsy / Eficácia e segurança do levetiracetam como terapia adjunta na epilepsia focal refratária

ABSTRACT Background: Epilepsy affects about 50 million people worldwide and around 30% of these patients have refractory epilepsy, with potential consequences regarding quality of life, morbidity and premature mortality. Objective: The aim of treatment with antiseizure medications (ASMs) is to allow patients to remain without seizures, with good tolerability. Levetiracetam is a broad-spectrum ASM with a unique mechanism of action that differs it from other ASMs. It has been shown to be effective and safe for treating adults and children with epilepsy. Methods: This was a phase III, multicenter, randomized, double-blind, placebo-controlled trial to evaluate the efficacy and safety of levetiracetam in children and adults (4-65 years) as an adjuvant treatment for focal-onset seizures. It was conducted among 114 patients undergoing treatment with up to three ASMs. The primary efficacy analysis was based on the proportion of patients who achieved a reduction of ≥ 50% in the mean number of focal seizures per week, over a 16-week treatment period. The patients were randomized to receive placebo or levetiracetam, titrated every two weeks from 20 mg/kg/day or 1,000 mg/day up to 60 mg/kg/day or 3,000 mg/day. Results: Levetiracetam was significantly superior to placebo (p = 0.0031); 38.7% of the participants in the levetiracetam group and 14.3% in the control group shows reductions in focal seizures. Levetiracetam was seen to have a favorable safety profile and an adverse event rate similar to that of placebo. Conclusion: Corroborating the results in the literature, levetiracetam was shown to be effective and safe for children and adults with refractory focal-onset epilepsy.

RESUMO Introdução: A epilepsia afeta cerca de 50 milhões de pessoas em todo o mundo e aproximadamente 30% desses pacientes apresentam epilepsia refratária, com possíveis consequências na qualidade de vida, morbidade e mortalidade prematura. Objetivo: O objetivo do tratamento com fármacos antiepilépticos (FAEs) é permitir que os pacientes permaneçam sem crises epilépticas com boa tolerabilidade. O levetiracetam (LEV) é um FAE de amplo espectro, com mecanismo de ação único, diferente dos demais e que demonstra ser eficaz e seguro no tratamento de adultos e crianças. Métodos: Estudo de fase III, multicêntrico, randomizado, duplo-cego e controlado por placebo avalia a eficácia e a segurança do LEV em crianças e adultos (4-65 anos) como tratamento adjuvante para crises de início focal em 114 pacientes já tratados com até três FAEs. A análise de eficácia primária foi baseada na proporção de pacientes que apresentaram redução ≥50% no número médio de crises epilépticas focais semanais, durante 16 semanas. Os pacientes foram randomizados para receber placebo ou LEV, titulado a cada duas semanas de 20 mg/kg/dia ou 1.000 mg/dia até 60 mg/kg/dia ou 3.000 mg/dia. Resultados: LEV foi significativamente superior ao placebo (p=0,0031), com 38,7% dos participantes no grupo LEV e 14,3% no grupo controle que apresentaram redução das crises focais. LEV apresenta bom perfil de segurança com eventos adversos semelhantes ao placebo. Conclusão: Corroborando com os resultados da literatura, o levetiracetam mostra-se eficaz e seguro para crianças e adultos com epilepsia focal refratária.

Efficacy and safety of vagus nerve stimulation in the treatment of refractory epilepsy / 中南大学学报(医学版)

OBJECTIVES@#Vagus nerve stimulation (VNS) is a neuromodulative therapeutic technique for patients with drug-resistant epilepsy who are not suitable for resection or who have experienced a failed resection. This study aims to explore the efficacy and safety of VNS in patients with refractory epilepsy, and to analyze the influential factors for the efficacy.@*METHODS@#A retrospective review of clinical data were conducted for 35 patients, who were treated for refractory epilepsy through VNS surgery in the Department of Neurosurgery, Xiangya Hospital, Central South University from April 2016 to August 2019. All patients were analyzed in terms of the clinical and follow-up data.@*RESULTS@#After a mean follow-up of 26 months (6-47 months), outcome was as follows: 7 patients were MuHugh class I, 13 patients were MuHugh class II, 8 patients were MuHugh class III, and 7 patients were MuHugh class IV-V. The total efficacy rate in the short duration group was significantly higher than that in the long duration group (77.8% vs 50.0%, @*CONCLUSIONS@#VNS is a safe and effective option in treating patients with refractory epilepsy, especially for those with short duration.

Dieta Cetogénica en el paciente con epilepsia refractaria / Ketogenic Diet in patients with refractory epilepsy

INTRODUCCIÓN: La epilepsia afecta a 0,5% a 1% de la población, iniciándose en la infancia en el 60% de los casos. El 25% de los niños que la presentan, tienen epilepsia refractaria (ER) a fármacos antiepilépticos (FAE) y en ellos la dieta cetogénica (DC) surge como un tratamiento no farmacológico efectivo. OBJETIVO: Evaluar el impacto de la DC en el número de crisis, en la calidad de vida y bienestar del paciente y su entorno. PACIENTES Y MÉTODO: Se revisaron los registros médicos de los pacientes con diagnóstico de ER que recibieron DC entre los años 2008 y 2018 registrando variables: edad, diagnóstico, número de crisis, número de FAE, respuesta y complicaciones. La DC se inició en todos los casos con el paciente hospitalizado durante un período no mayor a siete días, en el cual se realizó evaluación nutricional antropométrica con medición de peso y talla según condición clínica. RESULTADOS: Se analizaron 35 DC. La mediana de edad al inicio fue 4,8 años con rango intercuartil (RIC) de 2,3-6,8 años. Se utilizó DC clásica en 49% de los pacientes, Dieta Atkins Modificada en 37% y Dieta de Bajo Índice Glicémico en 14%. Su promedio de duración fue 13 meses + 11 DS meses. Luego de tres meses de iniciada la DC, la reducción de al menos un 50% de las crisis se observó en 82% de los casos, de los cuales 22,8% presentaron reducción de más de 90% y 20% quedó libre de crisis. Se registraron efectos secundarios en 21 pacientes, la mayoría gastrointestinales (62%) y dislipidemia (14%). Todos los efectos secundarios se resolvieron con manejo médico. CONCLUSIONES: La DC es un tratamiento efectivo en pacientes pediátricos con ER y las complicaciones asociadas fueron fácilmente controla das por un equipo multidisciplinario.

INTRODUCTION: Epilepsy affects 0.5 to 1% of the population. 25% of pediatric patients have drug-resistant epilepsy (DRE). Ketogenic Diet (KD) emerges as an effective, non-pharmacological treatment in this group. OBJECTIVE: To describe the effect of KD on seizure control and nutritional status in children whit DRE. PATIENTS AND METHOD: We reviewed the medical records of patients with DRE treated with KD, between 2008 and 2018, evaluating age, diagnosis, number of seizures, number of antiepileptic drugs used, clinical outcomes, and complications. The KD was initiated in all patients hospitalized for a period no longer than seven days, who were evaluated for their nutritional and anthropometric sta tus, with weight and height measurements according to the clinical condition. RESULTS: We analyzed 35 KD in 33 cases. The median age of KD initiation was 4.8 years with an interquartile range (IQR) of 2-3 to 6.8 years. Classical KD was used in 49% of patients, Modified Atkins Diet (MAD) in 37%, and Low-Glycemic Index Treatment (LGIT) in 14% of cases. The average duration was 13 months (SD 11 months). After three months of using KD, we observed at least 50% reduction of seizures in 82% (27/33) of the patients, out of these, 22.8% presented 90% or more reduction of seizures, and 20% ended up seizure-free. Adverse events were observed in 21 patients, mainly gastrointestinal (62%) and dyslipidemia (14%), without effect on height. All side effects resolved with medical ma nagement. CONCLUSIONS: KD is a useful treatment in pediatric patients with DRE without nutritional impact. The adverse events were easily controlled if the patients are evaluated by a multidisciplinary team, according to international guidelines.

Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar? / Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.

Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Dieta cetogénica: mecanismos en el control de la epilepsia refractaria / Ketogenic diet: refractory epilepsy control mechanisms

Introducción: Existe un porcentaje relevante de pacientes con epilepsia que son refractarios al tratamiento con fármacos anticonvulsivan-tes. Este cuadro, se denomina epilepsia refractaria (ER), en el cual, la dieta cetogénica (DC), ha probado ser una alternativa efectiva. Existen diferentes versiones de la DC, y ciertos componentes de esta dieta han mostrado ser más efectivos que otros. Por otra parte, diferentes autores han propuesto hipótesis, de cómo, la DC podría actuar a nivel molecular y celular, para controlar estas crisis epilépticas. Los objetivos de esta revisión, son, explicar la DC, y analizar la evidencia existente, en relación con los mecanismos, a través de los cuales, la DC ejerce un control de las crisis convulsivas. Método y resultados: Se realizó una búsqueda avanzada en PubMed, considerando los términos «refrac-tory¼, «epilepsy¼, «ketogenic¼ y «diet¼, incluidos en el título y el resumen. La búsqueda, dio como resultado, 288 artículos publicados en los últimos 10 años. De estos artículos, se seleccionaron 134 potencialmente relevantes, posterior a la lectura de sus títulos. Se realizó la lectura del resumen para los 134 artículos, de los cuales, se seleccionaron 17, que fueron, a juicio de los autores, los que incluían la información pertinente para esta revisión. La búsqueda se centró en artículos originales y revisiones disponibles en inglés,con énfasis, en los artículos apropiados para comprender los conceptos generales de la DC y los mecanismos de acción, que podrían representar un rol relevante al momento de controlar la ER. Conclusiones: La DC ha probado ser efectiva en el tratamiento de la ER, sin embargo, hay pacientes que no la toleran adecuadamente. Existen ciertos compuestos asociados la DC que han probado ser más efectivos que otro como es el caso de los triglicéridos de cadena mediana (TCM). Finalmente, se han investigado numerosas hipótesis en relación con el mecanismo de acción de la DC, donde destacan las hipótesis de los cuerpos cetónicos, la adenosina y la del cortocircuito GABA.

Introduction: A percentage of epilepsy patients are refractory to treatment with anticonvulsant drugs. An effective alternative for treating this condition, known as refractory epilepsy (RE), is the ketogenic diet (KD). There are different variations of the KD, and certain components of this diet have been shown more effective than others. Various authors have proposed hypotheses for how the KD acts on the molecular and cellular levels in controlling seizures. The objectives of this review are to explain the KD and analyze existing evi-dence regarding the mechanisms through which the KD exercises control over seizures. Methods and results: PubMed was extensively searched using the terms «refractory¼, «epilepsy¼, «ketogenic¼, and«diet¼ included in the title and abstract. The search returned 288 published articles within the last ten years. Of these 288 manuscripts, 134 were selected as potentially relevant based on the title. After reading the abstract of each potentially relevant paper, 17 were finally included in the review. These manuscripts, per the judgement of the authors of this study, included information pertinent to the review. The search focused on original articles and reviews available in English, with an emphasis on texts appropriate for understanding the general concepts of the KD and the mechanisms of action that could play a relevant role in controlling RE. Conclusions: The KD has been proven effective in treating RE. However, some patients do not adequately tolerate this diet. There are certain compounds associated with the KD that are more effective than others, as is the case with medium-chain triglycerides. Finally, numerous hypotheses exist regarding the mechanisms of action for the KD. Notable among these hypotheses are ketone bodies, adenosine, and the GABA shunt.

A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome

@#Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNAwas extracted from the peripheral blood of our patient and her parents. To investigate the moleculardiagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysiswas performed for all of the family members for the validation and segregation of this mutation. PubMed/Medline, Web of Science, and Google Scholar were also searched to find all of the publisheddata on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of ourpatient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutationwas also found to be heterozygous in her mother and father. The mutation caused alternative splicingof the ROGDI translation and resulted in a disruption of the ROGDI protein.

El equipo multidisciplinario en la aplicación clinica de la dieta cetogénica / Multidisciplinary teamwork in the clinical application of the ketogenic diet

La dieta cetogénica se considera un tratamiento eficaz y bien tolerado para la epilepsia refractaria. Nuestro trabajo suministra información práctica sobre el uso de la dieta cetogénica, realizando una revisión acerca de las indicaciones clásicas y las nuevas que permiten ampliar el uso de la misma. Detallamos cómo implementar la dieta, los controles médicos en el seguimiento y la forma de actuar en situaciones especiales, tales como la anestesia o la enfermedad aguda. Se enfatiza la i mportancia del trabajo de los profesionales de las distintas especialidades y la familia como equipo, detallando los roles que ocupa cada uno en este interesante pero laborioso tratamiento.

The ketogenic diet is an established, effective and well-tolerated treatment in refractory epilepsy. This paper provides practical information on the administration of ketogenic diet. It goes over the standardized protocols and the new ones that allow to broaden the scope regarding the clinical management of the ketogenic diet. It addresses issues such as the implementation, counseling and follow-up as well as the application and how to proceed in special situations such as anesthesia or acute illness. Finally, the aim of this paper is to highlight the relevance of the multidisciplinary teamwork and the family support throughout this laborious but interesting treatment.

Consentimiento informado en pacientes con epilepsias intratables / Informed consent in patients with intractable epilepsy

La ética médica aborda, entre otros aspectos, la relación médico-paciente, de la cual se deriva el término consentimiento informado como su máxima expresión. La epilepsia afecta al 1-2 por ciento de la población mundial, y en la búsqueda de soluciones a esta enfermedad los sujetos son involucrados en diferentes tipos de estudios. En el presente trabajo se realiza una breve revisión de algunos aspectos éticos relacionados con la aprobación dada por los pacientes que padecen epilepsia o su representante legal para participar en estudios que presuponen la realización de exámenes diagnósticos y el empleo de formas novedosas de tratamiento, lo que se materializa a través del consentimiento informado. Especialmente, se hace referencia a la participación de los pacientes en ensayos clínicos y el manejo de las pacientes que quedan embarazadas en el transcurso del ensayo clínico, los efectos adversos de la medicación y de la cirugía de epilepsia(AU)

Medical Ethics addresses, among other aspects, the doctor-patient relationship from which the term informed consent is derived as its maximum expression. Epilepsy affects 1-2 percent of the world population, and in the search for solutions to this disease the subjects are involved in different types of studies. In the present paper, a brief review of some ethical aspects related to the approval given by patients suffering from epilepsy or their legal representative to participate in studies that presuppose the performance of diagnostic tests and the use of novel forms of treatment. This is materialized through informed consent. Especially, there is a reference to the participation of patients in clinical trials, and the management of patients who become pregnant during the clinical trial, the adverse effects of medication, and epilepsy surgery(AU)

Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."